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...

Descripción completa

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

Internet

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

Ejemplares similares