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The molecular diagnosis of metabolic myopathies
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
The molecular diagnosis of metabolic myopathies
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
author name string
Vladutiu GD
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
publication date
1 February 2000
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
volume
18
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
page(s)
53-104
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
cites work
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.
1 reference
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The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
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Molecular genetic analysis of McArdle's disease in Spanish patients
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Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human mitochondrial very-long-chain acyl-CoA dehydrogenase gene (LCACD) to 17p13 by in situ hybridization
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
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Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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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
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Crossref
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https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases
1 reference
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Crossref
reference URL
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7 January 2021
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McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
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McArdle's disease-muscle glycogen phosphorylase deficiency.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease: Molecular genetics and metabolic consequences of the phenotype
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Regional localization of loci on chromosome 14 using somatic cell hybrids
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
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7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11,
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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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
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reference charts for respiratory chain activities in human tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the Ca2+-dependent modulator protein as the fourth subunit of rabbit skeletal muscle phosphorylase kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Accumulation of mitochondrial DNA deletions in myotubes cultured from muscles of patients with mitochondrial myopathies.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural organization of the human short-chain acyl-CoA dehydrogenase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondria in neuromuscular disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen storage diseases of muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Improved detection of the G1528C mutation in LCHAD deficiency
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of the phosphofructokinase subunits and isoenzymes in human tissues
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis of McArdle's disease by molecular genetic analysis of blood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fuel Homeostasis in Exercise
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A juvenile variant of glycogenosis IV (Andersen disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease with myoadenylate deaminase deficiency: observations in a combined enzyme deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The structural gene for aldolase B (ALDB) maps to 9q13----32
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
To fire the train: a second malignant-hyperthermia gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The anesthetic myopathies and malignant hyperthermias.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Q28287645
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human aldolase A gene. Structural organization and tissue-specific expression by multiple promoters and alternate mRNA processing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular gene mapping of human aldolase A (ALDOA) gene to chromosome 16.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Malignant hyperthermia in a patient with hypokalemic periodic paralysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Yield of mtDNA mutation analysis in 2,000 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure-specific endonucleolytic cleavage of nucleic acids by eubacterial DNA polymerases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the R65Q mutant of yeast 3-phosphoglycerate kinase complexed with Mg-AMP-PNP and 3-phospho-D-glycerate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of AMP deaminase deficiency in skeletal muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatty acid oxidation defects in muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
McArdle's disease resembling an inflammatory myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in muscle phosphofructokinase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sarcoid myopathy and mitochondrial respiratory chain defects: clinicopathological, biochemical and molecular biological analyses
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mild juvenile variant of type IV glycogenosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogenosis type II (acid maltase deficiency)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and biochemical features of fatty acid oxidation disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kearns-Sayre syndrome and complex II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of human aldolase C gene to chromosome 17, region cen----q21.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of 'double trouble'
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of the myoadenylate deaminase deficiencies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evolutionary analysis of the nucleus-encoded subunits of mammalian cytochrome c oxidase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid screening for Tp53 mutations by temperature gradient gel electrophoresis: a comparison with SSCP analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Maternal inheritance and the evaluation of oxidative phosphorylation diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial encephalomyopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The relation between blood lactate and ammonia in ischemic handgrip exercise
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanisms in mitochondrial DNA depletion syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and characterization of the human muscle phosphofructokinase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization and intron usage analysis of the human CPT1B gene for muscle type carnitine palmitoyltransferase I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic characteristics of myoadenylate deaminase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle phosphofructokinase deficiency in two generations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation analysis in myophosphorylase deficiency (McArdle's disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA depletion in a patient with long survival
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial diseases in man and mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype correlation in adult-onset acid maltase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation identified in carnitine palmitoyltransferase II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recurrent myoglobinuria and HIV seropositivity: incidental or pathogenic association?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
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%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2805%2970179-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(05)70179-1
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
PubMed ID
10658169
1 reference
stated in
Europe PubMed Central
PubMed ID
10658169
retrieved
29 July 2017
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