So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager-Reference-Cited by-同舟云学术

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So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager

Published:2006-04 Issue:4 Volume:16 Page:269-273
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Beresford Michael W.,Pourfarzam Morteza,Turnbull Doug M.,Davidson Joyce E.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference20 articles.

1. Glutaric aciduria type II: report on a previously undescribed metabolic disorder;Przyrembel;Clin Chem Acta,1976

2. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship;Gregersen;Hum Mutat,2001

3. Defects of electron transfer flavoprotein and electron transfer flavoprotein–ubiquinone oxidoreductase: glutaric aciduria type II;Frerman,2001

4. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenase deficiency;Olsen;Hum Mutat,2003

5. Development of validated disease activity and damage indices for the juvenile idiopathic inflammatory myopathies: I. Physician, parent and patient global assessmnets. Juvenile dermatomyositis disease activity collaborative study group;Rider;Arthritis Rheum,1997

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1. Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature;Journal of International Medical Research;2022-03

2. Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series;Frontiers in Neurology;2021-11-08

3. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency;Genes;2021-05-08

4. Glutaric Aciduria Type II With Ketosis in a Male Infant;Cureus;2021-04-10

5. ETF dehydrogenase advances in molecular genetics and impact on treatment;Critical Reviews in Biochemistry and Molecular Biology;2021-04-07

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