Results 21 to 30 of about 11,284 (188)

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, C Ronald Scott, Michael Mauer, Stuart Shankland, Jeffrey Pippin, Jonathan A Jefferson, Eric Wallace, David Warnock, Behzad Najafian   +8 more
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

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

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

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated ...
Amy Kritzer, Aishwarya Siddharth, Kate Leestma, Olaf Bodamer   +3 more
doaj   +1 more source

Doença de Fabry Fabry disease

Anais Brasileiros de Dermatologia, 2009
A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A.
Paula Boggio, Paula Carolina Luna, María Eugenia Abad, Margarita Larralde   +3 more
doaj   +1 more source

Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

Journal of Medical Case Reports, 2012
Introduction Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys ...
Felisati Giovanni, Salvatici Elisabetta, Pipolo Carlotta, Portaleone Sara, Riva Enrica, Giovannini Marcello   +5 more
doaj   +1 more source

Management of Fabry disease [PDF]

Orvosi Hetilap, 2010
A Fabry-kór a lizoszomális tárolási betegségek csoportjába tartozó, X-kromoszómához kötötten, recesszív módon öröklődő betegség, amely a globotriaozilceramid felhalmozódásához vezet a szervezet legkülönbözőbb szöveteiben. A betegség első tünetei többnyire gyermekkorban jelentkeznek, a progresszió során a betegek súlyos szervi károsodásokkal és korai ...
Tamás, Constantin, Annamária, Székely, Andrea, Ponyi, Vera, Gulácsy, Csaba, Ambrus, Krisztina, Kádár, Ildikó, Vastagh, Angéla, Dajnoki, Beáta, Tóth, Gergely, Bokrétás, Veronika, Müller, Mária, Katona, Márta, Medvecz, Orsolya, Fiedler, Rita, Széchey, Edit, Varga, Gábor, Rudas, Attila, Kertész, Sándor, Molnár, Sarolta, Kárpáti, Viktor, Nagy, Pál, Magyar, Mohamed, Mahdi, Eva, Rákóczi, Krisztina, Németh, Dániel, Bereczki, Miklós, Garami, Melinda, Erdos, László, Maródi, György, Fekete   +29 more
openaire   +2 more sources

Fabry's Disease.

Internal Medicine, 1992
A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cells.
KATO, Haruka, SATO, Kenichi, HATTORI, Susumu, IKEMOTO, Suguru, SHIMIZU, Mitsuyuki, ISOGAI, Yukihide   +5 more
openaire   +3 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, Asel H. Isabekova, Aigerim Z. Botabekova, Pavel I. Novikov   +3 more
doaj   +1 more source