CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

N.V. Zhurkova; O.B. Kondakova; T.V. Bushueva; E.P. Rybakova; T.E. Borovik

Вопросы современной педиатрии (Oct 2008)

CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

N.V. Zhurkova,
O.B. Kondakova,
T.V. Bushueva,
E.P. Rybakova,
T.E. Borovik

Affiliations

N.V. Zhurkova: Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
O.B. Kondakova: Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
T.V. Bushueva: Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
E.P. Rybakova: Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow
T.E. Borovik: Scientific Center of Children's Health, Russian Academy of Medical Sciences, Moscow

Journal volume & issue: Vol. 7, no. 5
pp. 71 – 74

Abstract

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The data of different firms of hereditary galactosemia was analyzed in this article. Clinical and biochemical characteristics and molecular and genetic features of diagnostics of this disease were described. The information about differential diagnosis and problems, related with hereditary galactozemia screening in Russia was given.Key words: children, galactosemia, treatment, screening.

Published in Вопросы современной педиатрии

ISSN: 1682-5527 (Print); 1682-5535 (Online)
Publisher: "Paediatrician" Publishers LLC
Country of publisher: Russian Federation
LCC subjects: Medicine: Pediatrics
Website: https://vsp.spr-journal.ru

About the journal