PURPOSE: To report a case of bilateral cataracts in a child that led to diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. DESIGN: Observational case report. METHODS ...

Muscular dystrophy (MD) represents a group of inherited muscle disorders that primarily cause muscle weakness and muscle wasting, though some types of the disease also present with other ...

Muscular dystrophy can appear in infancy up to middle age or later, and its form and severity are determined in part by the age at which it occurs. Some types of muscular dystrophy typically ...

Dystrophy is any condition in which a part of the body weakens or wastes away. In muscular dystrophy, the weakness is in the muscles. An inherited genetic mistake prevents the body from making a ...

1 Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK 2 Regional Immunology Department, Newcastle upon Tyne Hospitals NHS Trust Correspondence to: Dr ...

This datum prompted the authors to systematically estimate TG value in all patients with several autoimmune diseases or hyperactive immune response. In some patients, serum FFA level was also ...

The aim of this study was to describe the clinical treatment of young patients, affected by ectodermal dysplasia (ED), and to possibly establish clinical guidelines. The study design was case series.

The major clinical features of cone dystrophy are photophobia, reduced visual acuity and abnormal colour vision. Ganzfeld electroretinography shows reduced or absent cone responses. On the basis ...

罕见病又名孤儿病，在全世界已超过7000种。《中国罕见病定义研究报告2021》将新生儿中发病率小于1/万、患病率小于1/万 ...

Here we discuss observations that TGF-β family proteins actively participate in redirecting the differentiation of ectodermal and epithelial cells towards mesodermal and mesenchymal differentiation.

There is a simple discount patient access scheme for vamorolone. NHS organisations can get details on the Commercial Access and Pricing (CAP) Portal. Non-NHS organisations can contact ...