Preferred Label : Fabry Disease;

NCIt synonyms : Alpha-Galactosidase A Deficiency;

NCIt related terms : Fabry's Disease;

NCIt definition : A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.;

Alternative definition : NICHD: An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.;

NCI Metathesaurus CUI : CL412926;

Détails


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https://www.theses.fr/2023NORMR076
2023
France
dissertations, academic
science
Fabry Disease
fabry disease
fabry's disease

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