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Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan
Methionine S-adenosyltransferase deficiency, due to mutations in MAT1A , is the most common cause of persistent isolated hypermethioninemia (PIH). While the recessive form may cause neurological consequences, the dominant form is typically benign. This condition may be found in asymptomatic infants...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499608/ https://ncbi.nlm.nih.gov/pubmed/31061746 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1683900 |
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