JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.10, pp.1245-1250, 2020 (Journal Indexed in SCI)
Article / Review
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Objectives: Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22.