Results 31 to 40 of about 3,192 (225)
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
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
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
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
Novel compound heterozygous variants in the TSPEAR gene causing autosomal recessive hearing loss in a Chinese family. [PDF]
Pediatr InvestigPediatric Investigation, Volume 8, Issue 4, Page 313-315, December 2024.
Shi X, Liu X, Zhao Z, Zong Y, Sun Y.
europepmc +2 more sources
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype. [PDF]
Mol Genet Genomic MedThe genotype and phenotype of Mexican patients with Fabry disease (FD) are similar to other populations. Atypical phenotype of FD, such as the one associated with the novel variant c.122C>G, can be a diagnostic challenge, as it can be mixed up with multiple sclerosis.
Kimball TN +5 more
europepmc +2 more sources
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
Horner's Syndrome with a Sensation of Warmth Due to Hypohidrosis
Internal Medicine, 2013 Manabu Higaki +3 more
openalex +5 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
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