Results 101 to 110 of about 4,991,114 (167)

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

, 2014
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD).
Johnson, Britt;Mascher, Hermann;Mascher, Daniel;Legnini, Elisa;Hung, Christina Y.;Dajnoki, Angela;Chien, Yin-Hsiu;Marodi, Laszlo;Hwu, Wuh-Liang;Bodamer, Olaf A., 胡務亮 ;簡穎秀   +1 more
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Neurological manifestations in Fabry disease

, 2016
Fabry disease (FD) is a rare, progressive, multisystem and highly debilitating disease. FD is an X-linked lysosome storage disorder that results in α-galactosidase A deficiency.
Brooks, Joseph Bruno Bidin, Fragoso, Yara Dadalti   +1 more
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Coronary stenosis in Fabry disease with optical coherence tomography imaging presentation: a case report. [PDF]

Eur Heart J Case Rep
Peng Z, Zheng B, Zhao Y, Zhang W, Ma W.
europepmc   +1 more source

Case Report: Concurrent Fabry disease, IgA nephropathy and undifferentiated connective tissue disease in a female with normal enzyme activity. [PDF]

Front Immunol
Cui A, Ma S, Sun T, Chang M, Lu S, Fu S, Xu H.   +6 more
europepmc   +1 more source

Fabry disease : the many faces of a single disorder

In 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, separately described a disease characterized by skin lesions, known as angiokera-tomas. This issue contains two reports of Fabry disease (FD) patients presenting with
Torra, Roser, Ortíz, Alberto
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Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient. [PDF]

Cureus
Joppich J, Mehta S, Mandavilli N, Rojas Alvarez F, Mehta V.   +4 more
europepmc   +1 more source

Original Communication - Capillaroscopy in Fabry disease: Study of a family

, 2006
Background: Nail bed capillaroscopy represents a simple and innocuous diagnosis method, used in vasculitis or collagen diseases. In Fabry disease (FD), there is a vasculopathy due to the storage of globotriaosylceramide. This is the first series that
Mónica López-Rodríguez, Julia García-Consuegra, Antonio Torrijos Eslava, Juan José Vázquez-Rodríguez, Jorge Gómez-Cerezo, Bárbara Pagán-Muñoz, Natividad Arias-Martínez, Francisco Javier Barbado-Hernández   +7 more
core  

Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases. [PDF]

Medicina (Kaunas)
Atılgan KG, Aylı BI, Aylı MD.
europepmc   +1 more source

Long-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report. [PDF]

Am J Case Rep
Tan C, Thanabalasingam V, Sella Kapu C, Hiskens M, Zhang Z.   +4 more
europepmc   +1 more source

Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment. [PDF]

Orphanet J Rare Dis
Graziani F, Biagini E, Argirò A, Citro R, Iaccarino G, Lanzillo C, Monte I, Pieruzzi F, Zuchi C, Pieroni M.   +9 more
europepmc   +1 more source