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- Title
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy.
- Authors
Desnick, Robert J.; Brady, Roscoe; Barranger, John; Collins, Allan J.; Germain, Dominique P.; Goldman, Martin; Grabowski, Gregory; Packman, Seymour; Wilcox, William R.
- Abstract
Provides clinical guidelines on the diagnosis and treatment of Fabry disease, an X-linked recessive lysosomal storage disorder. Disease pathophysiology; Clinical manifestations; Clinical trials of enzyme replacement therapy in patients with Fabry disease; Recommendations for diagnosis and treatment.
- Subjects
LYSOSOMAL storage diseases; X chromosome abnormalities
- Publication
Annals of Internal Medicine, 2003, Vol 138, Issue 4, p338
- ISSN
0003-4819
- Publication type
Article
- DOI
10.7326/0003-4819-138-4-200302180-00014