@article{oai:u-ryukyu.repo.nii.ac.jp:02012390,
 author = {Chinen, Yasutsugu and Nakamura, Sadao and Yoshida, Tomohide and Maruyama, Hiroki and Nakamura, Kimitoshi},
 journal = {Human Genome Variation},
 month = {Feb},
 note = {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 alpha-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history., 論文},
 title = {A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels},
 volume = {4},
 year = {2017}
}