title: A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels.
abstract: A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of theGLAgene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus , Nishihara, Japan.
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Chinen
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus , Nishihara, Japan.
authors.forename: Sadao
authors.initials: S
authors.lastname: Nakamura
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of the Ryukyus , Nishihara, Japan.
authors.forename: Tomohide
authors.initials: T
authors.lastname: Yoshida
authors.affiliation: Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences , Niigata, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Maruyama
authors.affiliation: Department of Pediatrics, Graduate School of Medical Science, Kumamoto University , Kumamoto, Japan.
authors.forename: Kimitoshi
authors.initials: K
authors.lastname: Nakamura