Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.

Mudd SH, Cerone R, Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Lorini R, Watkins D, Matiaszuk N, Rosenblatt DS, Schwahn B, Rozen R, LeGros L, Kotb M, Capdevila A, Luka Z, Finkelstein JD, Tangerman A, Stabler SP, Allen RH, Wagner C
J Inherit Metab Dis. 2001 24 (4): 448-64

PMID: 11596649 · DOI:10.1023/a:1010577512912

MeSH Terms (14)

Alanine Transaminase Aspartate Aminotransferases Child Child, Preschool Diet Female Glycine N-Methyltransferase Hepatomegaly Humans Liver Methionine Methyltransferases S-Adenosylmethionine Sarcosine

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