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...
Main Authors: | , , , |
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Format: | Article |
Language: | Russian |
Published: |
MONIKI
2020-10-01
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Series: | Alʹmanah Kliničeskoj Mediciny |
Subjects: | |
Online Access: | https://www.almclinmed.ru/jour/article/view/1271 |