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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Veröffentlicht in:Voprosy sovremennoĭ pediatrii 2008-10, Vol.7 (5), p.71-74
Hauptverfasser: N.V. Zhurkova, O.B. Kondakova, T.V. Bushueva, E.P. Rybakova, T.E. Borovik
Format: Artikel
Sprache:eng
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Zusammenfassung: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.
ISSN:1682-5527
1682-5535