The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

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Fabry disease 3 endocrinologydiseases
mucopolysaccharidosis 1 endocrinologydiseases

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Fabry disease 906 18147 Rostock, GermanyPublication date (epub): 12/2016Publication date (collection): 12/2016Abstract Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum.
Fabry disease 2257 activity of the mutants facilitates the identification of non-pathological variants.1. Introduction Fabry disease (FD, OMIM #301500) is a rare pathology, but accounts for 8.8% of the patients affected by inherited
Fabry disease 7299 [[34],[36],[40]]. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease have recently been provided by the European Fabry Working Group consensus document [[28]]. The effect
mucopolysaccharidosis 3380 inactivation and lack of cross-correction that occurs in other lysosomal storage disorders such as mucopolysaccharidosis type II [[11]]. Random X-chromosome inactivation in heterozygous females leads to a mosaic of cells,

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