Case ReportConfirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
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Abbreviations
MAT
methionine adenosyltransferase
PPPase
tripolyphosphatase
AdoMet
S-adenosyl-methionine
WT
wild-type
AdoHcy
S-adenosyl-homocysteine
Keywords
Methionine adenosyltransferase I/III deficiency
Hypermethioninemia
MAT1A
Mudd's disease
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© 2017 The Authors. Published by Elsevier Inc.