Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Yokoi
Kyoko
K
Department of Pediatrics, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan. kyoyo@med.nagoya-cu.ac.jp
Ito
Tetsuya
T
Ohkubo
Yumiko
Y
Sumi
Satoshi
S
Ueta
Akihito
A
Sugiyama
Naruji
N
Togari
Hajime
H
D000293:Adolescent; D001622:Betaine / Q000627:therapeutic use*; D003541:Cystathionine beta-Synthase / Q000097:blood / Q000172:deficiency*; D005260:Female; D005765:Gastrointestinal Agents / Q000627:therapeutic use*; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000097:blood / Q000188:drug therapy* / Q000201:enzymology*; D006801:Humans; D008715:Methionine / Q000097:blood; D035781:Siblings
D005765:Gastrointestinal Agents; D006710:Homocysteine; D001622:Betaine; D008715:Methionine; D003541:Cystathionine beta-Synthase