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Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations

Methionine adenosyltransferase (MAT) I/III deficiency (OMIM # 250850) is caused by a mutation in MAT1A, which encodes the two hepatic MAT isozymes I and III. With the implementation of newborn screening program to discover hypermethioninemia due to cystathionine beta-synthase deficiency, more cases...

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Detalhes bibliográficos
Publicado no:Ther Clin Risk Manag
Main Authors: Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5798556/
https://ncbi.nlm.nih.gov/pubmed/29440907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S151732
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