ID 111648
著者
Watanabe, Toshiyuki The University of Tokushima|Kagawa Prefectural Tsuda Hospital
Ito, Michinori The University of Tokushima
Naito, Etsuo The University of Tokushima
Yokota, Ichiro The University of Tokushima
Matsuda, Junko The University of Tokushima
キーワード
homocystinuria
newborn screening
cystathionine β-synthase
methionine
homocyst(e)ine
資料タイプ
学術雑誌論文
抄録
We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine β-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.
掲載誌名
The Journal of Medical Investigation
ISSN
13431420
cat書誌ID
AA11166929
出版者
The University of Tokushima School of Medicine
44
1-2
開始ページ
95
終了ページ
97
並び順
95
発行日
1997-08
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系