Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
Author:
Funder
Quanzhou Municipal Science and Technology Plan Project
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference21 articles.
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2. Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases;Battaile;J. Biol. Chem.,2004
3. Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans;Nguyen;Mol. Genet. Metab.,2002
4. Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. Genetics in medicine : official journal of the American College of;Pena;Medical Genetics,2012
5. Ethylmalonic encephalopathy: clinical and biochemical observations;Zafeiriou;Neuropediatrics,2007
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