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A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

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.G...

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Detalles Bibliográficos
Autores principales:	Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311055/ https://www.ncbi.nlm.nih.gov/pubmed/28224042 http://dx.doi.org/10.1038/hgv.2017.2

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