Leucinosis, or maple syrup urine disease (lecture and a clinical case)

Maple syrup urine disease (leucinosis, short-chain ketoaciduria, branched-chain disease, branched-chain ketonuria) is an autosomal recessive disorder which is a consequence of the deficient branched-chain alpha ketoacid dehydrogenase complex. There are five subtypes of the disease: classical, interm...

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Bibliographic Details
Main Authors: Ju. A. Tsareva, N. I. Zryachkin, M. A. Kuznetsova, E. V. Bogacheva
Format: Article
Language:Russian
Published: MONIKI 2020-10-01
Series:Alʹmanah Kliničeskoj Mediciny
Subjects:
Online Access:https://www.almclinmed.ru/jour/article/view/1271