Results 51 to 60 of about 3,399 (216)
Clinical and Pathological Findings in Women with Fabry Disease [PDF]
, 2012 Introduction. Fabry disease is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, located on chromosome X.
Carvalho, F +3 more
core +2 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
core
Speech-language findings on pain congenital insensitivity with anhydrosis: case report [PDF]
, 2007 PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for ...
Chiappetta, Ana Lúcia de Magalhães Leal +1 more
core +3 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 790-799, April 2026.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
Brain and Behavior, Volume 16, Issue 4, April 2026.Autopsy findings in autoimmune autonomic ganglionopathy (AAG) revealed preserved thoracic sympathetic ganglia, intact cardiac sympathetic fibers, and preserved enteric plexuses, providing pathological support for AAG as a channelopathy. Abstract Introduction Autoimmune autonomic ganglionopathy (AAG) is a rare disorder characterized by widespread ...
Daisuke Taniguchi +7 more
wiley +1 more source
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
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
core
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
Naegeli-Franceschetti-Jadassohn syndrome: A rare case
Indian Dermatology Online Journal, 2015 Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene.
Bela J Shah +3 more
doaj +1 more source