Fabry disease revisited: Management and treatment recommendations for adult patients

Author:

Ortiz AlbertoORCID,Germain Dominique P.ORCID,Desnick Robert J.,Politei Juan,Mauer Michael,Burlina Alessandro,Eng Christine,Hopkin Robert J.,Laney Dawn,Linhart AlešORCID,Waldek Stephen,Wallace Eric,Weidemann Frank,Wilcox William R.

Funder

Intensificación FIS

FEDER Funds

Plan National Maladies Rares of the French Ministry of Health

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference100 articles.

1. Fabry disease;Germain;Orphanet. J. Rare Dis.,2010

2. Newborn screening for lysosomal storage disorders;Matern;Semin. Perinatol.,2015

3. X-chromosome inactivation in female patients with Fabry disease;Echevarria;Clin. Genet.,2015

4. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry;Wilcox;Mol. Genet. Metab.,2008

5. Characterization of classical and nonclassical Fabry disease: a multicenter study;Arends;J. Am. Soc. Nephrol.,2017

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