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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Format: | Article |
Language: | English |
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"Paediatrician" Publishers LLC
2008-10-01
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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. |
first_indexed | 2024-03-12T04:22:49Z |
format | Article |
id | doaj.art-402a3860f05b4779b32d3053404d40b8 |
institution | Directory Open Access Journal |
issn | 1682-5527 1682-5535 |
language | English |
last_indexed | 2024-03-12T04:22:49Z |
publishDate | 2008-10-01 |
publisher | "Paediatrician" Publishers LLC |
record_format | Article |
series | Вопросы современной педиатрии |
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 |