High resolution melting analysis facilitates mutation screening of ETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference21 articles.
1. Defects of electron transfer flavoprotein and electron transfer flavoprotein–ubiquinone oxidoreductase: glutaric aciduria type II;Frerman,2001
2. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II;Gregersen;J Inherit Metab Dis,1980
3. Multiple acylcoenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts;Rhead;Pediatr Res,1993
4. Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies;Vergani;Brain,1999
5. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase;Di Donato;Neurology,1986
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