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Review
Endocrinology & Metabolism
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
Dominique P. Germain et al.
Summary: Fabry disease is a lysosomal disorder that causes the accumulation of glycosphingolipids, leading to organ damage and reduced life expectancy. Treatment goals should be individualized based on the phenotype and severity of the disease. Expert consensus and literature review were used to develop practical clinical recommendations for disease and organ-specific therapeutic goals in Fabry disease.
MOLECULAR GENETICS AND METABOLISM (2022)
Article
Cardiac & Cardiovascular Systems
Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease
Djeven Parameshvara Deva et al.
JOURNAL OF CARDIOVASCULAR MAGNETIC RESONANCE (2016)
Article
Transplantation
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
Wim Terryn et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2013)