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Metabolic myopathies
scientific article published on 01 June 1996
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
review article
1 reference
stated in
Europe PubMed Central
title
Metabolic myopathies
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
author name string
I Tein
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
publication date
1 June 1996
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
published in
Seminars in pediatric neurology
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
volume
3
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
page(s)
59-98
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
cites work
Fuel Homeostasis in Exercise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glucose turnover during exercise in man
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Intramuscular substrate utilization during prolonged exercise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Selective glycogen depletion pattern in human muscle fibres after exercise of varying intensity and at varying pedalling rates
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen depletion of different fibre types in human skeletal muscle during intermittent and continuous exercise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Changes in lipoprotein-lipase activity and lipid stores in human skeletal muscle with prolonged heavy exercise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle Phosphofructokinase Deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary deficiency of lactate dehydrogenase M-subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle glucose-6-phosphate dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA deletions in inherited recurrent myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Skeletal-Muscle Disorder Associated with Intermittent Symptoms and a Possible Defect of Lipid Metabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Improved diagnosis of Becker muscular dystrophy by dystrophin testing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two dissimilar brothers with Becker's dystrophy have an identical genetic defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoglobinuria, 1984
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolic causes of myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolic myopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human glycogen debrancher gene to chromosome 1p21.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen→q32) using somatic cell hybrids and monoclonal anti-M antibody
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pathophysiology of McArdle's disease: clues to regulation in exercise and fatigue
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myophosphorylase deficiency impairs muscle oxidative metabolism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Residual acid maltase activity in late-onset acid maltase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Improvement of muscle function in acid maltase deficiency by high-protein therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphorylase b kinase deficiency in man: a review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of signal integration in phosphorylase kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late-onset Mcardle's disease with unusual electromyographic findings
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile form of muscle phosphorylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile muscle phosphorylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphorus magnetic resonance spectroscopy (31P MRS) in neuromuscular disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's syndrome (myopathy in muscle phosphorylase deficiency)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominant inheritance of McArdle syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease: two clinical expressions in the same pedigree
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Histochemical detection of phosphorylase in animal tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle disease: the mystery of reappearing phosphorylase activity in muscle culture--a fetal isoenzyme
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease: biochemical and molecular genetic studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular heterogeneity in McArdle's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amino Acid Metabolism in McArdle's Syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathy in McArdle's syndrome. Improvement with a high-protein diet
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The long-term outcome of patients with glycogen storage diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Type III glycogenosis presenting as liver disease in adults with atypical histological features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical investigation of an unusual case of glycogenosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathy associated with Type III glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuromuscular involvement in glycogen storage disease type III.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac involvement in glycogen storage disease type III
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gross cardiac involvement in glycogen storage disease type 3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Type 3 glycogenosis. An adult with diffuse weakness and muscle wasting
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen debrancher deficiency is reproduced in muscle culture
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Debranching enzyme from rabbit skeletal muscle; evidence for the location of two active centres on a single polypeptide chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency: studies of some properties of erythrocyte and muscle enzyme
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Histochemical diagnosis of muscle phosphofructokinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of human muscle phosphofructokinase cDNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle phosphoglycerate rnutase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physiologic assessment of phosphoglycerate mutase deficiency: incremental exercise test
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phosphorus magnetic resonance spectroscopy of partially blocked muscle glycolysis. An in vivo study of phosphoglycerate mutase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Branching enzyme-deficiency glycogenosis: studies in therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogenosis IV: A new cause of infantile hypotonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe cardiopathy in branching enzyme deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen branching enzyme deficiency in adult polyglucosan body disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Polyglucosan body disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Liver transplantation for type IV glycogen storage disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defects of metabolism of fatty acids in the sudden infant death syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Starvation in man
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatty acid oxidation disorders: A new class of metabolic diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoglycaemia in infants and children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoglycemia in infancy and childhood. Part I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
47 Short-chain and long-chain enoyl-CoA hydratases from pig heart muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Purification and characterization of the trifunctional beta-oxidation complex from pig heart mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comparison of fatty acid oxidation in mitochondria and peroxisomes from rat liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acyl-CoA:glycine N-acyltransferase: organelle localization and affinity toward straight- and branched-chained acyl-CoA esters in rat liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of n-hexanoylglycine in urines from two patients with Jamaican vomiting sickness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple factors in experimental human ketosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of Reye's syndrome serum on isolated chinchilla liver mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Serum dicarboxylic acids in patients with Reye syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
L-palmitylcarnitine and calcium ions act similarly on excitatory ionic currents in avian ventricular muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct activation of Ca2+ channels by palmitoyl carnitine, a putative endogenous ligand
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine--metabolism and functions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A radioisotopic-exchange method for quantitation of short-chain (acid-soluble) acylcarnitines
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and purification of the carnitine carrier from rat liver mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kinetic characterization of the reconstituted carnitine carrier from rat liver mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA cloning and mitochondrial import of the beta-subunit of the human electron-transfer flavoprotein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The incidence and presentation of dicarboxylic aciduria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequency of the G985 MCAD mutation in the general population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
HUMAN MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
INTRAMITOCHONDRIAL FIBERS WITH DNA CHARACTERISTICS. I. FIXATION AND ELECTRON STAINING REACTIONS
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence and organization of the human mitochondrial genome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physiologic measurement of exercise and fatigue with special reference to chronic fatigue syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a cDNA clone for the beta-subunit of the pyruvate dehydrogenase component of human pyruvate dehydrogenase complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mitochondrial electron transport and oxidative phosphorylation system
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of the genes of some components of the electron transport chain (complex I) on the X chromosome of mammals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defects in the cytochrome bc1 complex in mitochondrial diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy: tissue-specific expression of a defect in ubiquinol-cytochrome c reductase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Therapy of mitochondrial disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A newborn infant with respiratory distress and persistent stridulous breathing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuromuscular Disorder Associated With a Defect in Mitochondrial Energy Supply
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy with a defect of mitochondrial-protein transport
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kearns-Sayre syndrome presenting as renal tubular acidosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct sequencing of deleted mitochondrial DNA in myopathic patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondria and Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MELAS: clinical features, biochemistry, and molecular genetics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Vascular involvement in mitochondrial myopathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial progressive external ophthalmoplegia and ragged-red fibers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: A new approach to the study of mitochondrial myopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoadenylate deaminase deficiency: inherited and acquired forms.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980038-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S1071-9091(96)80038-6
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
PubMed ID
8795843
1 reference
stated in
Europe PubMed Central
PubMed ID
8795843
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8795843%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
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