Now showing items 1-4 of 4
Left and right ventricular functions may be impaired in children diagnosed with subclinical hypothyroidism
(Nature Research, 2020)
Subclinical hypothyroidism (SH) may infuence both ventricular functions. The aim of this study was to evaluation the fndings of Tissue Doppler Imaging (TDI) and other echocardiography modalities in children with SH. We ...
Nationwide Turkish cohort study of hypophosphatemic rickets
(Galenos Yayincilik, 2020)
Objective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect ...
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress
(American Society for Clinical Investigation, 2020)
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in ...
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene
(Taylor & Francis Group, 2020)
Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which is inherited autosomal recessive. It occurs result of a mutations in gene cytochrome (CYP)17A1, which encodes both 17α-hydroxylase ...