Fabry disease
DP Germain - Orphanet journal of rare diseases, 2010 - Springer
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 …
metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic …
Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on …
Purpose—The purpose of this statement is to review the literature on childhood stroke and to
provide recommendations for optimal diagnosis and treatment. This statement is intended …
provide recommendations for optimal diagnosis and treatment. This statement is intended …
Inborn errors of metabolism and expanded newborn screening: review and update
CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry
K Sims, J Politei, M Banikazemi, P Lee - Stroke, 2009 - Am Heart Assoc
Background and Purpose—Stroke is a common and serious clinical manifestation of Fabry
disease, an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A …
disease, an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A …
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
L Van der Tol, BE Smid, B Poorthuis… - Journal of medical …, 2014 - jmg.bmj.com
Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-
galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals …
galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals …
Cerebrovascular involvement in Fabry disease: current status of knowledge
E Kolodny, A Fellgiebel, MJ Hilz, K Sims, P Caruso… - Stroke, 2015 - Am Heart Assoc
among young patients with stroke, 16 there are no reports on the frequency of silent brain
infarcts in FD. Aseptic meningitis can occur concomitantly in Fabry patients who have had …
infarcts in FD. Aseptic meningitis can occur concomitantly in Fabry patients who have had …
Fabry disease: a review of current management strategies
A Mehta, M Beck, F Eyskens, C Feliciani… - … Journal of Medicine, 2010 - academic.oup.com
Fabry disease is an X-linked inherited condition due to the absence or reduction of α-
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide …
Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017
D Doheny, R Srinivasan, S Pagant, B Chen… - Journal of medical …, 2018 - jmg.bmj.com
Background Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …
Fabry's disease
R El-Abassi, D Singhal, JD England - Journal of the neurological sciences, 2014 - Elsevier
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the
GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of …
GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of …