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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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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
Formato: Artigo
Idioma:Russo
Publicado em: Ltd. “The National Academy of Pediatric Science and Innovation” 2020-11-01
Colecção:Rossijskij Vestnik Perinatologii i Pediatrii
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Acesso em linha:https://www.ped-perinatology.ru/jour/article/view/1240
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