Results 121 to 130 of about 4,533 (250)

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey [PDF]

, 2016
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation.
Barba Romero, Miguel Ángel, Pintos-Morell, Guillem   +1 more
core   +3 more sources

REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS)

Journal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male.
Susi R. Puspita Dewi
doaj   +1 more source

Towards a one‐time cure for Fabry disease: Lentivirus‐mediated haematopoietic stem and progenitor cell gene therapy

Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Rina Kansal
wiley   +1 more source

Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease [PDF]

, 2017
Background: Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood ...
Beck, Michael, de Lorenzo, Abelardo García, Dehout, François, Gal, Andreas, Houge, Gunnar, Kampmann, Christoph, Kleinert, Julia, Linhart, Ales, Mehta, Atul, Ramaswami, Uma, Ricci, Roberta, Schwarting, Andreas, Sunder-Plassmann, Gere, Widmer, Urs   +13 more
core  

Acquired anhidrosis in a patient with Sjogren syndrome and silicone breast implants

JAAD Case Reports, 2020
Mary Beth Gadarowski, BS, Tatsiana Pukhalskaya, MD, Ramsay Farah, MD, Bruce R. Smoller, MD   +3 more
doaj   +1 more source

Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation

Journal of Inborn Errors of Metabolism and Screening, 2014
Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj   +1 more source

The Kidney in Fabry Disease

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   +1 more source

Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease [PDF]

, 2017
Aims A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor ...
Barbey, Frédéric, Bekri, Soumeya, Brakch, Noureddine, Correvon, Magali, Dormond, Olivier, Golshayan, Dela, Mazzolai, Lucia, Steinmann, Beat   +7 more
core  

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Cholinergic Urticaria: Case Report Of Urticaria Induced By Acquired Seasonal Hypohidrosis [PDF]

, 2014
Yuriy Zgherea, Muhammad Imran, Jaron T. Abbott, Aaron K. Pinion, Selina Gierer, John Martinez   +5 more
openalex   +1 more source