Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency-Reference-Cited by-同舟云学术

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Published:2017-04 Issue:4 Volume:120 Page:342-349
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bedoyan Jirair K.,Yang Samuel P.,Ferdinandusse Sacha,Jack Rhona M.,Miron Alexander,Grahame George,DeBrosse Suzanne D.,Hoppel Charles L.,Kerr Douglas S.,Wanders Ronald J.A.

Funder

Case Western Reserve University

Clinical and Translational Science Collaborative (CTSC) CWRU Core Utilization Pilot Grant

NIH

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

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4. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway;Wanders;J. Inherit. Metab. Dis.,2012

5. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism;Peters;Brain,2014

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