Newborn screening for Fabry disease in the western region of Japan

Author:

Sawada Takaaki,Kido Jun,Yoshida Shinichiro,Sugawara Keishin,Momosaki Ken,Inoue Takahito,Tajima Go,Sawada Hirotake,Mastumoto Shirou,Endo Fumio,Hirose Shinichi,Nakamura Kimitoshi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference33 articles.

1. Alpha-galactosidase A deficiency: Fabry disease;Desnick,2001

2. Fabry disease: a review of current management strategies;Mehta;QJM,2010

3. Newborn screening for lysosomal storage disorders;Nakamura;Am. J. Med. Genet. Part C Semin. Med. Genet.,2011

4. Clinical manifestations of Fabry disease in children: data from the Fabry outcome survey;Ramaswami;Acta Paediatr. Int. J. Paediatr.,2006

5. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry;Eng;J. Inherit. Metab. Dis.,2007

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