Tissue distribution of glycosphingolipids in a case of Fabry's disease
Journal of Lipid Research, 1969 A survey was made of the glycolipid composition of various tissues, including liver, spleen, kidney (cortex and medulla), lymph node, pancreas, prostate gland, heart muscle, thenar muscle, gastrointestinal smooth muscle, frontal cerebral cortex, anterior
James M. Schibanoff +2 more
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Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin [PDF]
European Journal of Case Reports in Internal Medicine, 2017 Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipids and ...
Francesca Graziani +7 more
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GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? [PDF]
Arquivos Brasileiros de Cardiologia, 2019 Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of ...
Ândrea Virgínia Chaves-Markman +9 more
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Infertility in Fabry’s Disease: role of hypoxia and inflammation in determining testicular damage [PDF]
Frontiers in EndocrinologyIntroductionFabry’s disease (FD) is a genetic X-linked systemic and progressive rare disease characterized by the accumulation of globotriaosylceramide (GB3) into the lysosomes of many tissues.
Luigi Sansone +10 more
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Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study [PDF]
São Paulo Medical Journal, 1994 An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied.
Luiz Henrique Martins Castro +4 more
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Initially Nondiagnosed Fabry's Disease when Electron Microscopy Is Lacking: The Continuing Story of Focal and Segmental Glomerulosclerosis. [PDF]
Case Rep Nephrol Urol, 2013 Trimarchi H +6 more
europepmc +3 more sources
Fabry's Disease: Case Series and Review of Literature.
Ann Med Health Sci Res, 2016 Wani MM, Khan I, Bhat RA, Ahmad M.
europepmc +2 more sources
Riga-Fede disease associated with Fabry's disease and Niemann-Pick C disease in a boy with microcephaly: A case report. [PDF]
Int J Health Sci (Qassim), 2021 Alamankany A.
europepmc +2 more sources
Atrial Tachycardia in a Patient With Fabry’s Disease [PDF]
HeartRhythm Case Reports, 2016 Radoslaw Marek Kiedrowicz, MD, PhD +3 more
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Noncompaction in Fabry's disease
Revista Portuguesa de Cardiologia, 2015 Josef Finsterer +2 more
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