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Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up
(WALTER DE GRUYTER GMBH, 2017)
Background: Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given. Method: Data were obtained from patients' medical records. All patients underwent hormonal ...
Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene
(GALENOS YAYINCILIK, 2017)
Testicular adrenal rest tumors (TART) occur frequently in adolescents and adults with 21-hydroxylase deficiency. There have been no reports of TART in children with 3 beta-hydroxysteroid dehydrogenase deficiency (HSD3 ...
Protein Expression in the Diagnosis of LRBA Deficiency by Flow Cytometer
(BILIMSEL TIP YAYINEVI, 2017)
Objective: Lipopolysaccharide-responsive beige-like anchor (LRBA) plays a role in cell surface expression of inhibitory cytotoxic T lymphocyte-associated protein-4 (CTLA-4) protein. Recently identified LRBA deficiency leads ...
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets
(WILEY, 2017)
ContextHypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5 or SLC34A3. ObjectiveTo investigate underlying genetic defects ...