Results 41 to 50 of about 4,533 (250)
Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
doaj +1 more source
Clinical heterogeneity in Fabry disease: A clinical case [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023 Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
doaj +1 more source
Ulcerative Lesion of the Ileocecal Region in a Patient With Immunodeficiency. [PDF]
J Gastroenterol HepatolJournal of Gastroenterology and Hepatology, Volume 40, Issue 6, Page 1345-1347, June 2025.
Kinoshita N +10 more
europepmc +2 more sources
Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]
, 2015 Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B. +6 more
core +3 more sources
Molecular Genetics & Genomic Medicine, 2021 Background Congenital disorders of glycosylation (CDG) are a genetically heterogeneous group of disorders caused by defects in the synthesis and processing of glycoproteins.
Peiwei Zhao +7 more
doaj +1 more source
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease. [PDF]
, 2017 BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A.
Colomba P +14 more
core +1 more source
Ross syndrome: A case report and review of cases from India
Indian Journal of Dermatology, 2016 Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report
Manoj Kumar Agarwala +3 more
doaj +1 more source
Diagnóstico y tratamiento de la enfermedad de Fabry [PDF]
, 2017 El texto en español se encuentra disponibe en http://doi.org/10.1016/j.medcli.2016.09.047This work was supported by FIS PI13/00047, PI15/00298, CP14/00133, FEDER funds ISCIII-RETIC REDinREN RD12/0021 and RD16/0009, Sociedad Española de Nefrología ...
Ortiz, Alberto +1 more
core +2 more sources
Indian Journal of Dermatology, Venereology and Leprology, 2017 Sir, The etiology of palmoplantar hyperhidrosis is primary in the vast majority of cases and the secondary causes, comprising drugs, neurological or endocrine disorders, are rare.
Yan Ling Kong, Hong Liang Tey
openalex +2 more sources
Molecular and clinical studies in five index cases with novel mutations in the GLA gene [PDF]
, 2015 Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X ...
ALESSANDRO, Riccardo +11 more
core +1 more source