Results 31 to 40 of about 3,494 (229)

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, Venkateswarlu Meduri, Lakshmi Kavitha Nadendla, Namratha Shetty   +3 more
doaj   +1 more source

Ulcerative Lesion of the Ileocecal Region in a Patient With Immunodeficiency. [PDF]

J Gastroenterol Hepatol
Journal of Gastroenterology and Hepatology, Volume 40, Issue 6, Page 1345-1347, June 2025.
Kinoshita N, Kakimoto K, Kaji E, Mizuta N, Numa K, Nakazawa K, Koshiba R, Hirata Y, Miyazaki T, Nakamura S, Nishikawa H.   +10 more
europepmc   +2 more sources

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

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., Emilija Bajraktarova Valjakova, Gigovski, N., Guguvcevski, Lj., Korunoska Stevkovska, V., Misevska, C., Sotirovska Ivkovska, A.   +6 more
core   +3 more sources

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly

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, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He   +7 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, Sánchez-Niño, María Dolores   +1 more
core   +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, Leni George, Harshad Parmar, Vivek Mathew   +3 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, Corpora F, DAIDONE, Mario, Della Corte V, Di Chiara T, Duro G, Miceli S, Nucera A, Pecoraro R, Pinto A., Scaglione R, Simonetta I, Tuttolomondo A, VOGIATZIS, Danai, Zizzo C   +14 more
core   +1 more source

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, LICATA, Giuseppe, Miceli S, Pecoraro R, PINTO, Antonio, Simonetta I, TUTTOLOMONDO, Antonino   +6 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, Antonio Pinto, Giuseppe Licata, Irene Simonetta, Rosaria Pecoraro, Salvatore Miceli   +5 more
core   +1 more source