Results 11 to 20 of about 16,061 (232)

Fabry disease [PDF]

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.
Germain Dominique P
doaj   +3 more sources

Dizziness in Fabry Disease [PDF]

Biomedicines
Background/Objectives: Fabry disease is an X-linked lysosomal storage disease. Earlier studies have mentioned dizziness/balance issues and vestibular involvement as a symptom of Fabry disease. Research on the matter remains scarce. This pilot study aims to show the prevalence of dizziness/balance issues and whether it is due to peripheral, central, or ...
Aslak Broby Johansen, Ulla Feldt-Rasmussen, Mads Klokker   +2 more
openaire   +5 more sources

Echocardiography in Fabry Disease [PDF]

Cardiogenetics, 2013
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system.
Markus Niemann, Frank Weidemann
openaire   +4 more sources

The Kidney in Fabry Disease [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature.
Hernán Trimarchi MD, PhD
doaj   +2 more sources

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease [PDF]

, 2012
Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage
the Interdisciplinary Study Group on Fabry Disease, Gnarra,M, Aspite,N, Cardinali,G, Zampetti,A, BONGIORNO, Maria Rita, Manco,S, Morrone,A, Feliciani C., Linder,D, Parini,R, Antuzzi,D, O.r.t.e.u.,.C. H., Kovacs,D   +13 more
core   +3 more sources

Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease

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, Takahiro Tsukimura, Yurie Namai, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +1 more source

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain [PDF]

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W   +69 more
core   +1 more source

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

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source