Results 91 to 100 of about 3,399 (216)

Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case–control study

Therapeutics and Clinical Risk Management, 2016
Pauline Sahuc,1 Laurent Chiche,2 Bertrand Dussol,3 Jean Pouget,1 Jérôme Franques1,2,4 1Department of Neurology, La Timone Hospital, APHM, Aix-Marseille University, 2Department of Internal Medicine, European Hospital, 3Department of ...
Sahuc P, Chiche L, Dussol B, Pouget J, Franques J   +4 more
doaj  

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
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, 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  

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests [PDF]

, 2011
Background: Fabry disease is a rare disorder caused by a large variety of mutations in the gene encoding lysosomal alpha-galactosidase. Many of these mutations are unique to individual families.
Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis   +6 more
core   +2 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Hypohidrotic Ectodermal Dysplasia: Prosthetic Rehabilitation of a Rare Pediatric Case

Journal of Primary Care Dentistry and Oral Health
Prosthetic management of hypohidrotic ectodermal dysplasia can be considered an early intervention for an affected child, not only to optimize esthetics and the functioning of the stomatognathic system but also to improve general nutrition and health ...
Monalisa Das, Mrinmay Aulia
doaj   +1 more source

Pemakaian Gigi Tiruan Sebagian Pada Penderita Ektodermal Displasia dengan Anondonsia Parsial

Journal of Dentistry Indonesia, 2015
Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structure and their accessory appendeges. The main feature is hypohidrosis, hypotrichosis and hypodontia.
Rastia Indriyati, Retno Hayati, Margaretha Suharsini   +2 more
doaj   +1 more source

Fabry Disease in Latin America: Data from the Fabry Registry [PDF]

, 2012
The purpose of these analyses was to characterize demographic and baseline clinical characteristics of Latin American patients with Fabry disease compared to that of patients in the rest of the world.
A Linhart, A Mehta, A Ortiz, AL Cole, AS Levey, CM Eng, DP Germain, DP Germain, EH Kolodny, GE Linthorst, K Sims, KF Gold, M Banikazemi, MH Branton, NA Chamoles, PJ Meikle, R Schiffmann, R Schiffmann, RJ Desnick, RJ Hopkin, RO Brady, S Waldeck, S Waldek, TT Nguyen, WR Wilcox   +24 more
core   +1 more source

Ectodermal dysplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi   +3 more
doaj   +1 more source