Results 31 to 40 of about 9,399,207 (308)
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. [PDF]
PLoS ONE, 2016 Chronic kidney disease is a major complication of Fabry disease. Podocytes accumulate globotriaosylceramide inclusions more than other kidney cell types in Fabry patients. Podocyte injury occurs early in age, and is progressive.
Brent Fall +8 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2021 In Fabry disease, accumulation of glycolipids, predominantly globotriaosylceramide (Gb3), affects the kidneys, and nephropathy is one of the important disorders that influence the disease severity and prognosis of patients.
Tomoko Shiga +4 more
doaj +1 more source
An expert consensus document on the management of cardiovascular manifestations of Fabry disease
European Journal of Heart Failure, 2020 Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α‐galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide ...
A. Linhart +12 more
semanticscholar +1 more source
Molecular Genetics & Genomic Medicine, 2021 Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available.
D. Germain +18 more
semanticscholar +1 more source
Drugs of Today, 2006 Fabry disease is an inherited enzyme deficiency of galactosidase A that results in various phenotypes: classic, cardiac or renal. It can present variably and may represent an important cause of occult neurological and cardiac syndromes and renal failure.
Ewa, Jakubowska +2 more
+10 more sources
Fabry Disease Cardiac Involvement: Strengthen the Understanding of Early Diagnosis and Treatment
罕见病研究, 2023 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations of the GLA gene, resulting in the decreased a-galactosidase A activity and the accumulation of its substrate globotriasylceramide (GL-3) in the heart, kidney and other ...
LI Zhuojin, JIN Wei
doaj +1 more source
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
core +1 more source
Renal Manifestations of Fabry Disease: A Narrative Review
Canadian Journal of Kidney Health and Disease, 2021 Purpose of review: In this narrative review, we describe general aspects, histological alterations, treatment, and implications of Fabry disease (FD) nephropathy.
Cassiano Augusto Braga Silva +4 more
semanticscholar +1 more source
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
Prevalence of Fabry disease-causing variants in the UK Biobank
Journal of Medical Genetics, 2021 Background Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement.
M. Gilchrist +8 more
semanticscholar +1 more source