Results 131 to 140 of about 3,192 (225)

Doença de Fabry : diagnóstico de uma doença rara [PDF]

open access: yes, 2006
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac, and
Barros, Elvino José Guardão   +11 more
core  

Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults [PDF]

open access: yes, 2017
Adami, Alessandro   +32 more
core   +1 more source

Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report

open access: yesJournal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj  

Localized hypohidrosis is an unrecognized sequela of herpes zoster [PDF]

open access: yesJournal of the American Academy of Dermatology, 2017
Yurie Shimoda   +4 more
openaire   +3 more sources

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