Severe galactosemia of type 1 in a premature baby: difficulties of differential diagnosis

Galactosemia is a hereditary disease characterized by impaired galactose metabolism. A newborn fed by breast milk or an adapted infant formula quickly develop clinical manifestations of the disease associated with accumulation of galactose and its toxic metabolites in the body. Neonatal screening is...

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Bibliographic Details
Main Authors: I. V. Nikitina, I. M. Amelin, I. Sh. Makhmudov, O. A. Krogh-Jensen, E. A. Tumasyan, А. A. Lenyushkina, A. V. Degtyareva, D. N. Degtyarev
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2020-11-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
Online Access:https://www.ped-perinatology.ru/jour/article/view/1240