Results 111 to 120 of about 3,494 (229)
Cholinergic urticaria with hypohidrosis successfully treated with omalizumab [PDF]
, 2019 Yuka Kunimi, Shinichi Imafuku
openalex +1 more source
Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]
, 2014 Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan +5 more
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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
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 +13 more
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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
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Acquired anhidrosis in a patient with Sjogren syndrome and silicone breast implants
JAAD Case Reports, 2020 Mary Beth Gadarowski, BS +3 more
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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 +7 more
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