Lanean...
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...
Gorde:
| Argitaratua izan da: | Ann Transl Med |
|---|---|
| Egile Nagusiak: | , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
AME Publishing Company
2017
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641689/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s080 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|