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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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Detalles Bibliográficos
Autores principales:	Nashabat, Marwan, Al-Khenaizan, Sultan, Alfadhel, Majid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove Medical Press 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798556/ https://www.ncbi.nlm.nih.gov/pubmed/29440907 http://dx.doi.org/10.2147/TCRM.S151732

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