Hereditary tyrosinemia type 1 in an infant with multiple congenital defects

Hereditary tyrosinemia type 1 in an infant with multiple congenital defects

Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). The disease is diagnosed in approximately 1:100 000-1:120 000 cases of live births, and in certain...

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Main Authors: H. A. Sarkisyan, S. V. Cherkasova, A. A. Fadeeva, A. S. Yarushnikova, Yu. S. Piliuzina, A.  B. Smolyannikova, E. I. Shabelnikova, L. M.  Makarova, M. A. Ovsyannikova, L. A. Levchenko, T. G. Demyanova
Format: Article
Language:Russian
Published: Open Systems Publication 2023-07-01
Series:Лечащий Врач
Subjects:
tyrosinemia type 1
hepatorenaltyrosinemia
multiple congenital defects
dandy — walker syndrome
tubulopathy
Online Access:https://journal.lvrach.ru/jour/article/view/1085
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