A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference14 articles.
1. Glutaric aciduria type II: report on a previously undescribed metabolic disorder;Przyrembel;Clin Chim Acta,1976
2. C6–C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects;Gregersen;Pediatr Res,1982
3. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency;Olsen;Hum Mutat,2003
4. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations;Wen;J Neurol Neurosurg Psychiatry,2010
5. So doctor, what exactly is wrong with my muscles?Glutaric aciduria type II presenting in a teenager;Beresford;Neuromuscul. Disord.,2006
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