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Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene : New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia
Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for galactosemia is routine and utilizes the universally collected newborn dried blood specimen on filter paper. Screening for galactosemia is ac...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Investigative Pathology
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1907369/ https://ncbi.nlm.nih.gov/pubmed/12552079 |
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