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
Propylthiouracil-induced Alopecia Accompanying Hypohidrosis and Onychomadesis
Acta Dermato-Venereologica, 2022 Abstract is missing (Short communication)
Nozomi Yanagida +3 more
openaire +3 more sources
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
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
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
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.
Lind, Lisbet K +3 more
core +2 more sources
Neurological complications of Anderson-Fabry disease [PDF]
, 2013 Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina +6 more
core +1 more source
Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. [PDF]
, 2015 BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis.
Daniele, Aurora +5 more
core +3 more sources
Anderson-Fabry disease: a multiorgan disease. [PDF]
, 2013 Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2 ...
Antonino Tuttolomondo +5 more
core +1 more source
Concurrence of Hyperhidrosis and Hypohidrosis in Ross Syndrome
Clinical Medicine & Research, 2023 Ross Syndrome is a rare disorder characterized by tonic pupils, hyporeflexia, and abnormal segmental sweating. The pathophysiology of the disease remains unclear, with either hypohidrosis or hyperhidrosis reported in individual patients. We present the case of a man, aged 57 years, who presented with hyperhidrosis in his right extremities, anhidrosis ...
Gracia, Hamadeh, Jawad, Fares
openaire +2 more sources