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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...
Gorde:
| Argitaratua izan da: | Ann Transl Med |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
AME Publishing Company
2015
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| Gaiak: | |
| Sarrera elektronikoa: | 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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