Results 111 to 120 of about 4,533 (250)

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

Displasia Ectodérmica Hipohidrótica ligada ao X e eczema atópico - relato de um caso e discussão sobre os mecanismos do eczema [PDF]

, 2017
X-linked Hypohidrotic Ectodermal Dysplasia (XHED) is an inherited disorder that involves defective development of tissues derived from embryonic ectoderm and it is generally suspected by the triad of hypohidrosis, hypotrichosis and hypodontia. We report
Azevedo, Filomena, Duarte, Ana Filipa, Moreira, Catarina, Mota, Alberto   +3 more
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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  

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

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

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

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

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate.
Shanmugasundaram Karthikeyani, Velliangattur Ramasamy Thirumurthy, Bindhoo A Yuvaraja   +2 more
doaj   +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, Muačević-Katanec, Diana, Pećin, Ivan, Reiner, Željko, Šimić, Iveta, Šućur, Nediljko   +5 more
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Error in Spelling of Author Name in: Goosefleshlike Lesions and Hypohidrosis [PDF]

, 2008
Alfred Ammoury, Michaud, Paul, Alvarez, N Paillous, M Verrier, R Miller, A Mcdonald, A Alinovi, C Reverberi, M Melissari, M Gabrielli, C Zachary, D Slater, D Holt, G Storey, D Macdonald, J Blackshear, H Randle, J Ferguson, H Addo, S Jones, B Johnson, Frain- Bell, W, K Rappersberger, H Honigsmann, B Ortel, A Tanew, K Konrad, K Wolff, J Walter, H Bradner, G Curtis, S Waitzer, J Butany, L From, W Hanna, C Ramsay, E Downar, S Yones, O' Donoghue, N Palmer, R, Menage Hdu, P Hawk, J, S Karrer, U Hohenleutner, R Szeimies, M Landthaler, V Brazzelli, G Borroni, Dal Tio, R Riva, R Bollati, A Rabbiosi, G, H Ha, L Bigler, B Wendt, M Maggiorini, F Follath, G Eldred, G Miller, W Stark, L Feeney-Burns, S Seehafer, D Pearce   +68 more
openalex   +1 more source