Results 21 to 30 of about 16,061 (232)

Non-specific gastrointestinal features: Could it be Fabry disease? [PDF]

, 2018
Non-specific gastrointestinal symptoms, including pain, diarrhoea, nausea, and vomiting, can be the first symptoms of Fabry disease. They may suggest more common disorders, e.g. irritable bowel syndrome or inflammatory bowel disease.
Antonio Gasbarrini, Liguori, Rocco, Lorenzo Dagna, Max J. Hilz, Eloisa Arbustini, Goizet, Cyril, Marco Spada, Lacombe, Didier, Alessandro Burlina, Cyril Goizet, Hilz, Max J, Gasbarrini, Antonio, Juan Politei, Spada, Marco, Manna, Raffaele, Burlina, Alessandro, Arbustini, Eloisa, Rocco Liguori, Raffaele Manna, Politei, Juan, Didier Lacombe, Dagna, Lorenzo   +21 more
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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

Update on role of agalsidase alfa in management of Fabry disease [PDF]

, 2011
Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
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Screening for Fabry disease in Argentina in male patients with chronic kidney disease at all stages [PDF]

, 2022
We report three patients diagnosed with Fabry disease through a screening study which included individuals suffering from chronic kidney disease (CKD) at any stage.
Asociación de Estudios y Difusión de las Enfermedades Lisosomales y Fabry en la Argentina, Rozenfeld, Paula Adriana, Martin, Choua, Pablo, Neumann, Pedro, Quieto   +4 more
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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

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]

, 2013
This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Rolfs, A, Hermann Mascher (440562), Hermann Mascher, Anne-Katrin Giese, Ed Kolodny, Ulrike Grittner, Anne-Katrin Giese (440558), Arndt Rolfs (140849), Arseni Markoff (440559), Mascher, H, Arseni Markoff, Markoff, A, Karl J. Lackner (133732), Viatcheslav Saviouk (364866), Viatcheslav Saviouk, Saviouk, V, Phillip Wree, Arndt Rolfs, Grittner, U, Jan Lukas, Kolodny, E, Ed Kolodny (440561), Phillip Wree (440564), Wree, P, Jan Lukas (338014), Ulrike Grittner (440560), Karl J Lackner, Lukas, J, Wolfgang Meyer, Meyer, W, Wolfgang Meyer (440563), Giese, A-K, Lackner, KJ   +32 more
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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
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Otological aspects of Fabry disease in patients with normal hearing [PDF]

, 2019
2019-08We investigated the otological aspects of Fabry disease (FD) in patients with normal hearing. Forty-one patients (21 men, 20 women) with bilaterally normal hearing were recruited, and their otological symptoms and hearing evaluations, which ...
Sone, Michihiko, Wang, Fei, Sugimoto, Satofumi, Yamamoto, Hiroshi, Teranishi, Masaaki, Tsuboi, Kazuya, Yoshida, Tadao   +6 more
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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