(Q33879587)

29 July 2017

1 reference

5 July 2021

Inborn errors of energy metabolism associated with myopathies (English)

1 reference

inherited metabolic disorder

29 July 2017

1 reference

congenital structural myopathy

11 October 2019

1 reference

5 July 2021

1 reference

11 October 2019

1 reference

5 July 2021

Anibh M Das

1

1 reference

PubMed ID

20589068

29 July 2017

Ulrike Steuerwald

series ordinal

2

1 reference

PubMed ID

20589068

29 July 2017

Sabine Illsinger

series ordinal

3

1 reference

29 July 2017

26 May 2010

7 references

Journal of Biomedicine and Biotechnology

29 July 2017

13 March 2019

22 April 2019

25 April 2019

6 October 2019

11 October 2019

5 July 2021

7 references

29 July 2017

13 March 2019

22 April 2019

25 April 2019

6 October 2019

11 October 2019

5 July 2021

2010

1 reference

29 July 2017

340849

1 reference

Creative Commons Attribution 3.0 Unported

29 July 2017

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

Creative Commons Attribution 3.0 Unported

0 references

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.

5 July 2018

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Long-term management of children with neuromuscular disorders

5 July 2018

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Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options

5 July 2018

1 reference

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Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

5 July 2018

1 reference

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Limb immobilization induces a coordinate down-regulation of mitochondrial and other metabolic pathways in men and women

5 July 2018

1 reference

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Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

5 July 2018

1 reference

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Assessment of in vivo mitochondrial metabolism by magnetic resonance spectroscopy

5 July 2018

1 reference

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Regulation of mitochondrial dehydrogenases by calcium ions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

5 July 2018

1 reference

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Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Tarui disease and distal glycogenoses: clinical and genetic update

5 July 2018

1 reference

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Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit

5 July 2018

1 reference

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Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

5 July 2018

1 reference

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Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

McArdle disease: molecular genetic update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

5 July 2018

Malignant hyperthermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Diagnostic challenges of mitochondrial DNA disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondrial nitric oxide synthase, a voltage-dependent enzyme, is responsible for nitric oxide diffusion to cytosol

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Nitric oxide and mitochondria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Glycogenosis type V or McArdle's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Carnitine transport: pathophysiology and metabolism of known molecular defects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Regulation of the mitochondrial ATP-synthase in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Management of fatty acid oxidation disorders: a survey of current treatment strategies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Molecular characterization of glycogen storage disease type III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Fatty acid oxidation disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondria, oxygen free radicals, and apoptosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Regulation of mitochondrial respiration by nitric oxide inhibition of cytochrome c oxidase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

A potent PPARalpha agonist stimulates mitochondrial fatty acid beta-oxidation in liver and skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondria and neuronal survival

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Different clinical aspects of debrancher deficiency myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Disorders of mitochondrial fatty acyl-CoA beta-oxidation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Muscle amino acid metabolism at rest and during exercise: role in human physiology and metabolism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Muscle high-energy phosphates in central nervous system disorders. The phosphorus MRS experience

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Sudden neonatal death in carnitine transporter deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Fatty acid mitochondrial beta-oxidation and hypoglycaemia in children

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Primary and secondary carnitine deficiency syndromes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Carnitine palmitoyl transferase deficiency in malignant hyperthermia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Free radicals and calcium homeostasis: relevance to malignant hyperthermia?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Carnitine--metabolism and functions

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

5 July 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Isozymes of phosphofructokinase

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Chemiosmotic coupling in energy transduction: a logical development of biochemical knowledge

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

The inhibition of mitochondrial respiration by inhalational anaesthetic agents.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Neurological findings in triosephosphate isomerase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Malignant hyperthermia: relationship to other diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Effects of Ca2+ on the activities of the calcium-sensitive dehydrogenases within the mitochondria of mammalian tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Intracellular calcium as a regulator of the mitochondrial ATP synthase in cultured cardiomyocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Defects in regulation of mitochondrial ATP synthase in cardiomyocytes from spontaneously hypertensive rats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Regulation of the mitochondrial ATP synthase in intact rat cardiomyocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Control of mitochondrial ATP synthesis in the heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Absence of exercise-induced MRI enhancement of skeletal muscle in McArdle's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Mitochondrial ATP synthase regulation in heart: defects in hypertension are restored after treatment with captopril

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

The effects of calcium ions and adenine nucleotides on the activity of pig heart 2-oxoglutarate dehydrogenase complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Changes in amino acid concentration in plasma and type I and type II fibres during resistance exercise and recovery in human subjects

5 July 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Regulation of mitochondrial ATP synthase activity in human myocardium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Muscle pyruvate availability can limit the flux, but not activation, of the pyruvate dehydrogenase complex during submaximal exercise in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Reversible severe myopathy of respiratory muscles due to adult-onset type III glycogenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Permanent muscle weakness in McArdle disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Management of Fatty Acid Oxidation Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

A young woman with persistent hypoglycemia, rhabdomyolysis, and coma: recognizing fatty acid oxidation defects in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Mitochondrial fatty acid oxidation defects--remaining challenges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Family and personal history

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Phenotype and genotype variation in primary carnitine deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Anesthesia for a child with complex I respiratory chain enzyme deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

Chronic therapy for McArdle disease: the randomized trial with ACE inhibitor

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2877206

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

29 October 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1155%2F2010%2F340849

Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency

21 January 2018

1 reference

12 December 2020

Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase

1 reference

12 December 2020

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

1 reference

12 December 2020

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants

1 reference

12 December 2020

31-P NMR characterization of the metabolic anomalies associated with the lack of glycogen phosphorylase activity in human forearm muscle

1 reference

12 December 2020

The calcium-binding ATPase inhibitor protein from bovine heart mitochondria. Purification and properties

1 reference

12 December 2020

Regulation of the mitochondrial ATP synthase is defective in rat heart during alcohol-induced cardiomyopathy

1 reference

12 December 2020

Fat metabolism during exercise: a review--part II: regulation of metabolism and the effects of training

1 reference

12 December 2020

Measurement of the ratio of lactate to pyruvate in skin fibroblast cultures

1 reference

12 December 2020

Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance

1 reference

12 December 2020

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

1 reference

12 December 2020

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

1 reference

12 December 2020

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Comparison of the functional significance of left ventricular hypertrophy in hypertrophic cardiomyopathy and glycogenosis type III

1 reference

12 December 2020

Control of mitochondrial ATP synthase in rat cardiomyocytes: effects of thyroid hormone

1 reference

12 December 2020

Phosphorus NMR spectroscopy study of muscular enzyme deficiencies involving glycogenolysis and glycolysis

1 reference

12 December 2020

FURTHER STUDIES ON A POPULATION OF HUMAN SKELETAL MUSCLE MITOCHONDRIA LACKING RESPIRATORY CONTROL

1 reference

12 December 2020

Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene

1 reference

12 December 2020

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy

1 reference

12 December 2020

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

12 December 2020

Regulation of the mitochondrial ATP-synthase in skeletal muscle from children--a new diagnostic tool

1 reference

12 December 2020

Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial

1 reference

12 December 2020

18F-FDG PET imaging of muscle activity in runners

1 reference

12 December 2020

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

1 reference

12 December 2020

Control of mitochondrial ATP synthase in heart cells: inactive to active transitions caused by beating or positive inotropic agents

1 reference

12 December 2020

Glycogen storage disease type III associated with ventricular tachycardia

1 reference

12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

1 reference

12 December 2020

Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

1 reference

12 December 2020

[Non invasive investigation of muscle diseases using 31P magnetic resonance spectroscopy: potential in clinical applications]

1 reference

12 December 2020

Specific heart muscle disease associated with glycogen storage disease type III: clinical similarity to the dilated phase of hypertrophic cardiomyopathy

1 reference

12 December 2020

Mitochondrial metabolic states and membrane potential modulate mtNOS activity

1 reference

12 December 2020

[Malignant hyperthermia. General, clinical and experimental aspects]

1 reference

12 December 2020

Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3

1 reference

12 December 2020

Identifiers

DOI

10.1155/2010/340849

1 reference

29 July 2017

1 reference

29 July 2017

1 reference

PubMed ID

20589068