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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview

Rafael Alves Cordeiro1, Nilton Salles Rosa Neto2,3, Henrique Ayres Mayrink Giardini4

  • 1Division of Rheumatology, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av Dr Arnaldo, 455, 3 andar, sala 3184, Cerqueira Cesar, Sao Paulo, SP, CEP 01246-903, Brazil. rafael19abc@hotmail.com.

Advances in Rheumatology (London, England)
|March 23, 2024
PubMed

Keywords:
Fabry diseaseGaucher diseaseInborn errors of metabolismLysosomal storage diseasesRare diseasesRheumatic diseasesSphingolipidosesSphingolipids

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