ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT

ORNITHINE TRANSCARBAMYLASE DEFICIENCY – THE REAL CAUSE OF “FAMILY CURSE”. A CASE REPORT

Ornithine transcarbamylase deficiency (type II hyperammonemia) – X-linked metabolic disorder of the urea cycle, caused by mutations of the gene encoding ornithine transcarbamylase (OTC). Changes to the nervous system caused by degenerative processes in the gray and white matter of the cerebral hemis...

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Bibliographic Details
Main Authors: Zh. Sh. Bagomedova, A. S. Kotov, M. N. Borisova, M. V. Panteleeva, N. V. Zhurkova, A. A. Byome, Yu. Yu. Kotalevskaya, O. S. Mironova, I. V. Razheva
Format: Article
Language:Russian
Published: ABV-press 2016-04-01
Series:Русский журнал детской неврологии
Subjects:
ornithine transcarbamylase
urea cycle
deficiency
hereditary metabolic diseases
diagnostics
treatment
Online Access:https://rjdn.abvpress.ru/jour/article/view/137
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