Results 41 to 50 of about 3,399 (216)
mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families [PDF]
, 2006 BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands.
Lejon, Kristina +3 more
core +3 more sources
Spinocerebellar Ataxia Type 2 [PDF]
, 2012 1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg +3 more
core +1 more source
Allergology International, 2011 We report four adult cases of atopic dermatitis (AD) complicated by Sjogren's syndrome (SS). The patients fulfilled diagnostic criteria for AD and SS.
Shun Kitaba +7 more
doaj +1 more source
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj +1 more source
A 15-year perspective of the fabry outcome survey [PDF]
, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M +9 more
core +2 more sources
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]
, 2015 BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine +72 more
core +5 more sources
Printed Wearable Sweat Rate Sensor for Continuous In Situ Perspiration Measurement
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.A wireless wearable sweat rate sensor system is presented, featuring digital 3D direct‐write printing on a flexible substrate with microfluidic layers for continuous, real‐time monitoring. Printed encapsulated metal electrodes are used for capacitance measurements, achieving high sensitivity (0.01 μL min−1) while maintaining a compact and lightweight ...
Mohammad Shafiqul Islam +6 more
wiley +1 more source
Ectodermal dysplasia - A rare case report
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a rare genetic disease caused by developmental disturbances of embryonic ectoderm derived tissues, organs, and other accessory appendages. The congenital missing of teeth is usually bilateral.
Poulomi Bhakta +3 more
doaj +1 more source
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
Movement Disorders Clinical Practice, EarlyView.Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz +2 more
wiley +1 more source