Results 71 to 80 of about 4,533 (250)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Frequency of Fabry disease in male and female haemodialysis patients in Spain [PDF]
, 2011 Background: Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by a reduced activity of the lysosomal enzyme a-galactosidase A. The disorder ultimately leads to organ damage (including renal failure) in males and females.
Alegria, P.R. (Pilar) +13 more
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Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review [PDF]
, 2010 Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II).
Ida VD Schwartz +3 more
core +2 more sources
Ectodermal Dysplasia: A Review
Makara Journal of Health Research, 2021 Background: Ectodermal dysplasia is a complex group of genetic disorders identified through the abnormal development of ectodermal structures. It is a genetic disorder that affects the development or functions of tissues such as the teeth, hair, nails ...
Yasemin Yavuz +2 more
doaj +1 more source
Experimental Physiology, Volume 111, Issue 2, Page 403-425, 1 February 2026.Abstract The gastrointestinal (GI) microbiota and GI barrier integrity are hypothesised to contribute to exertional heat illness (EHI) aetiology. We compared the faecal microbiome, GI barrier integrity, inflammation and thermoregulation of 29 recent (∼4 months) EHI patients (a group with elevated EHI risk) and 29 control individuals without prior EHI ...
Alex A. M. Gould +13 more
wiley +1 more source
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease [PDF]
, 2013 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.The study has been ...
Giese, A-K +10 more
core +3 more sources
Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]
, 2008 Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando +4 more
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Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment
The Turkish Journal of Pediatrics, 2005 Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment.
Kutluhan Yilmaz +5 more
doaj
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source