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AB154. Molecular characterization of Filipino patients with variant galactosemia

BACKGROUND: Classical galactosemia is a disorder of carbohydrate metabolism caused by low to absent activity of the GALT (galactose-1-phosphate uridyltransferase) enzyme. The clinical manifestations occur early and are severe if untreated. In contrast, patients with variant galactosemia (VG) are app...

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Publicat a:Ann Transl Med
Autors principals: Estrada, Sylvia, Silao, Catherine Lynn, Canson, Daffodil
Format: Artigo
Idioma:Inglês
Publicat: AME Publishing Company 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4563474/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB154
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