CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

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 galactoze...

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Main Authors: N.V. Zhurkova, O.B. Kondakova, T.V. Bushueva, E.P. Rybakova, T.E. Borovik
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2008-10-01
Series:Вопросы современной педиатрии
Online Access:https://vsp.spr-journal.ru/jour/article/view/1459
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author N.V. Zhurkova
O.B. Kondakova
T.V. Bushueva
E.P. Rybakova
T.E. Borovik
author_facet N.V. Zhurkova
O.B. Kondakova
T.V. Bushueva
E.P. Rybakova
T.E. Borovik
author_sort N.V. Zhurkova
collection DOAJ
description 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.
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spelling doaj.art-402a3860f05b4779b32d3053404d40b82023-09-03T10:32:35Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352008-10-017571741459CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIAN.V. Zhurkova0O.B. Kondakova1T.V. Bushueva2E.P. Rybakova3T.E. Borovik4Научный центр здоровья детей РАМН, МоскваНаучный центр здоровья детей РАМН, МоскваНаучный центр здоровья детей РАМН, МоскваНаучный центр здоровья детей РАМН, МоскваНаучный центр здоровья детей РАМН, МоскваThe 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.https://vsp.spr-journal.ru/jour/article/view/1459
spellingShingle N.V. Zhurkova
O.B. Kondakova
T.V. Bushueva
E.P. Rybakova
T.E. Borovik
CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
Вопросы современной педиатрии
title CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
title_full CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
title_fullStr CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
title_full_unstemmed CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
title_short CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA
title_sort clinic differential diagnosis and treatment of galactosemia
url https://vsp.spr-journal.ru/jour/article/view/1459
work_keys_str_mv AT nvzhurkova clinicdifferentialdiagnosisandtreatmentofgalactosemia
AT obkondakova clinicdifferentialdiagnosisandtreatmentofgalactosemia
AT tvbushueva clinicdifferentialdiagnosisandtreatmentofgalactosemia
AT eprybakova clinicdifferentialdiagnosisandtreatmentofgalactosemia
AT teborovik clinicdifferentialdiagnosisandtreatmentofgalactosemia