Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes-Reference-Cited by-同舟云学术

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Published:2020-03 Issue:3 Volume:129 Page:193-206
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Strauss Kevin A.,Carson Vincent J.,Soltys Kyle,Young Millie E.,Bowser Lauren E.,Puffenberger Erik G.,Brigatti Karlla W.,Williams Katie B.,Robinson Donna L.,Hendrickson Christine,Beiler Keturah,Taylor Cora M.,Haas-Givler Barbara,Chopko Stephanie,Hailey Jennifer,Muelly Emilie R.,Shellmer Diana A.,Radcliff Zachary,Rodrigues Ashlin,Loeven KaLynn,Heaps Adam D.,Mazariegos George V.,Morton D. Holmes

Funder

Nutricia Research Foundation

Publisher

Elsevier BV

Subject

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

Reference52 articles.

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5. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population;Edelmann;Am. J. Hum. Genet.,2001

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