(Q37806661)

23 August 2017

title

Lipid storage myopathy. (English)

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23 August 2017

2

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author name string

Wen-Chen Liang

series ordinal

1

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23 August 2017

publication date

1 February 2011

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Current Neurology and Neuroscience Reports

23 August 2017

published in

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23 August 2017

volume

11

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23 August 2017

issue

1

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23 August 2017

page(s)

97-103

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Clinical and genetic analysis of lipid storage myopathies

23 August 2017

cites work

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12 December 2020

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

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12 December 2020

Cardiomyopathy and carnitine deficiency

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Pharmacological rescue of carnitine transport in primary carnitine deficiency

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Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

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12 December 2020

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

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12 December 2020

Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency

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12 December 2020

Mouse OCTN2 is directly regulated by peroxisome proliferator-activated receptor alpha (PPARalpha) via a PPRE located in the first intron

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12 December 2020

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

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12 December 2020

Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II

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12 December 2020

Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation.

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12 December 2020

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy

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12 December 2020

Neutral lipid storage disease with fatty liver and cholestasis

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12 December 2020

Distal lipid storage myopathy due to PNPLA2 mutation

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

1 reference

12 December 2020

High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

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

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12 December 2020

The C-terminal Region of Human Adipose Triglyceride Lipase Affects Enzyme Activity and Lipid Droplet Binding

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12 December 2020

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

1 reference

12 December 2020

Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

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12 December 2020

Neutral-lipid storage disease: a new disorder of lipid metabolism

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12 December 2020

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

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12 December 2020

Electron transfer flavoprotein deficiency: functional and molecular aspects

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12 December 2020

Treatment with pharmacological peroxisome proliferator-activated receptor alpha agonist clofibrate increases intestinal carnitine absorption in rats

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12 December 2020

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2

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12 December 2020

Defective lipolysis and altered energy metabolism in mice lacking adipose triglyceride lipase

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12 December 2020

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Ichthyosiform dermatosis with systemic lipidosis.

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12 December 2020

Lipid storage myopathies

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12 December 2020

Phenotype and genotype variation in primary carnitine deficiency

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12 December 2020

Current status of genetics research in inflammatory bowel disease.

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12 December 2020

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.

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12 December 2020

Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.

1 reference

12 December 2020

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

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12 December 2020

10.1007/S11910-010-0154-Y

Identifiers

DOI

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23 August 2017

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