State of the art in muscle lipid diseases. - Wikidata - wikimedia - TriplyDB

State of the art in muscle lipid diseases.

State of the art in muscle lipid diseases.

http://www.wikidata.org/entity/Q34580810

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Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Fatty Acid Oxidation and Cardiovascular Risk during Menopause: A Mitochondrial Connection?Rhabdomyolysis: a genetic perspective.Endocrine manifestations related to inherited metabolic diseases in adults.Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse.Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association Therapeutic advances in the management of Pompe disease and other metabolic myopathies Rhabdomyolysis. The role of diagnostic and prognostic factors.Rhabdomyolysis as a manifestation of a metabolic disease: a case report A Nonsense Variant in the ACADVL Gene in German Hunting Terrier Dogs with Exercise Induced Metabolic Myopathy.

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State of the art in muscle lipid diseases.

http://www.wikidata.org/entity/Q34580810

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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State of the art in muscle lipid diseases.

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P2860

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Muscle carnitine palmityltransferase deficiency and myoglobinuria

Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects

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

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