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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Argitaratua izan da:Ann Transl Med
Egile Nagusiak: Matsumoto, Shiro, Kido, Jun, Sakamoto, Rieko, Nakamura, Kimitoshi, Mitsubuchi, Hiroshi, Endo, Fumio
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: AME Publishing Company 2017
Gaiak:
Newborn Screening, Inborn Errors of Metabolism
Sarrera elektronikoa: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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