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A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia
Classic galactosemia (CG) is a potentially lethal genetic disease that results from profound impairment of galactose-1-P uridylyltransferase (GALT), the middle enzyme in the Leloir pathway of galactose metabolism. Patients with CG carry pathogenic loss-of-function mutations in both of their GALT all...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501235/ https://ncbi.nlm.nih.gov/pubmed/25681079 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_349 |
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