Results 21 to 30 of about 1,757 (183)
Corrigendum: Infertility in Fabry’s disease: role of hypoxia and inflammation in determining testicular damage [PDF]
Frontiers in EndocrinologyLuigi Sansone +10 more
doaj +2 more sources
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. [PDF]
Br J Ophthalmol, 2007 Sodi A +5 more
europepmc +3 more sources
P177: Highlights in the treatment of Fabry's disease in female pediatric patients
Genetics in Medicine Open, 2023 Giselle Gomez, Lina Moreno Giraldo
doaj +2 more sources
Neurological presentation of Fabry's disease in a 52 year old man. [PDF]
J Neurol Neurosurg Psychiatry, 2002 Mohanraj R +3 more
europepmc +3 more sources
Fabry’s disease: Neurological disorders [PDF]
Терапевтический архив, 2016 The paper considers the pathogenesis and clinical features of Fabry’s disease. It is stressed that along with cardiovascular system damage and kidney injury, there are peripheral and central nervous system lesions in this disease.
I V Damulin
doaj +1 more source
Orphanet Journal of Rare Diseases, 2010 Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase
openaire +4 more sources
Open Heart, 2021 Aims To phenotype patients referred to a tertiary centre for the exploration of a left ventricular hypertrophy (LVH) starting from 12 mm of left ventricular wall thickness (LVWT).Methods and results Consecutive patients referred for aetiological workup ...
Didier Carrié +8 more
doaj +1 more source
Journal of the American Society of Nephrology, 2014 Fabry disease is an X-linked disorder resulting from mutations of the gene that encodes the lysosomal hydrolase α -galactosidase A, and leads to progressive lysosomal accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids.[1][1] In classically affected male patients ...
David G, Warnock, Michael, Mauer
openaire +4 more sources
Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report [PDF]
Терапевтический архив, 2023 FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme ...
Olga V. Mashkunova +3 more
doaj +1 more source
The Significance of Ocular Findings in the Diagnosis of Fabry’s Disease
Türk Oftalmoloji Dergisi, 2011 Fabry’s disease is an X-linked, inherited disorder caused by a deficiency of the enzyme alfa-galactosidase A and characterized by progressive accumulation of glycosphingolipids within several tissues and organs, including the eye.
Cem Özgönül +4 more
doaj +1 more source