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AB080. MATI/III deficiency with demyelination of central tegmental tract during neonatal period
BACKGROUND: Methionine adenosyltransferase I/III (MATI/III) (EC 2.5.1.6), encoded by MAT1A gene, is the enzyme that converts methionine to S-adenosylmethionine (SAM). MATI/III deficiency (OMIM 250850) is an inherited metabolic disease resulting in hypermethioninemia, which is detectable by newborn s...
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| Publicado no: | Ann Transl Med |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
AME Publishing Company
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641689/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s080 |
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