Results 81 to 90 of about 119,685 (338)
Déficit de 21-hidroxilasa: aspectos actuales Deficiency of 21-hydroxylase: current aspects
Revista de Ciencias Médicas de Pinar del Río, 2009 La hiperplasia suprarrenal congénita (HSC) es una de las alteraciones autosómicas recesivas más frecuentes, caracterizada por un defecto enzimático en la síntesis de cortisol, la causa es en el 95% de los casos, la deficiencia de la enzima 21-hidroxilasa
Deysi Licourt Otero +1 more
doaj
Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact
Journal of Biochemical and Clinical Genetics, 2019 Background: Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolically inherited disorder, caused by an abnormal function of the branched-chain α-keto acid dehydrogenase complex in the mitochondria.
Zuhair Rahbeeni +2 more
doaj +1 more source
Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba [PDF]
, 2021 Tania Mayvel Espinosa Reyes +5 more
openalex +1 more source
Advanced Science, EarlyView.The loss of Ubiquitin Specific Peptidase 26 (USP26) in osteoblasts results in decreased bone formation, as well as multi‐organ fibrosis associated with insulin resistance (IR). Mechanistically, the absence of USP26 reduces glycolysis and lactate accumulation, leading to decreased histone H3 lysine 18 lactylation (H3K18LA) in the promoter region of KH ...
Jiyuan Tang +9 more
wiley +1 more source
Congenital adrenal hyperplasia in the adult women: management of old and new challenges [PDF]
, 2014 Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood.
Costa-Barbosa, Flávia A. +2 more
core +3 more sources
Advanced Science, EarlyView.Using human induced pluripotent stem cells (hiPSCs)‐derived neuronal model, Tian and colleagues reveal that voltage‐gated calcium channels Cav1.2 and Cav1.3, and their mediated calcium ion influx, are essential for early morphogenesis of human neuronal development, while ECEL1 underlies human neuronal functional developmental maturation through CALM3 ...
Yue Tian +5 more
wiley +1 more source
Microcephaly with ambiguous genitalia
Medical Journal of Dr. D.Y. Patil University, 2015 Ambiguous external genitalia could cause parental emotional trauma especially in an African setting where early gender assignment is an integral part of our culture.
Ibrahim Aliyu
doaj +1 more source
21-hydroxylase deficiency and fertility
Medical alphabet, 2020 21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss.
M. M. Amiraslanova, I. V. Kuznetsova
openaire +2 more sources
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
, 2015 Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V. +2 more
core +1 more source
Insulin gene polymorphisms in type I diabetes, Addison's disease and the polyglandular autoimmune syndrome type II [PDF]
, 2008 Background: Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from ß-cell ...
Badenhoop, Klaus +9 more
core +2 more sources