Fabry disease: Prototype of Lysosomal Storage Disorder with systemic involvementComment on “Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry
Microsoft PowerPoint - Fabry and Females 2022 AKFv11_Wallace Version FinalFabry Disease and Women: The Role of Nephrologists in Diagnosis and Management September 20, 2022
Fabry Disease: Thirty-Five Mutations in the a-Galactosidase A Gene in Patients with Classic and Variant Phenotypes Christine M. Eng,*,t Grace A. Ashley,* Tania S. Burgert,*
GREGORY M. PASTORES,* YEONG-HAU H. LIEN† *Neurogenetics Program, Department of Neurology and Pediatrics, New York University School of Medicine, New York, New York;
HSE Guidelines for the treatment of Fabry DiseasePublished: February 2022 Review: February 2025 Version number: 1 Protocol Code: ERT001 Approved by: Dr Mike O’Connor
ONLINE MUTATION REPORT Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers A Morrone, C Cavicchi, T Bardelli, D Antuzzi,
Introduction lysosomal storage disorder, characterised by the accumulation of globotriasylceramide (GL3) in tissues throughout the body.1 Deficiency of the lysosomal enzyme