Results 111 to 120 of about 6,020 (257)
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients. [PDF]
PLoS ONE, 2011 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases.
Carolina Minutolo +9 more
doaj +1 more source
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency: revision of literature and preconception genetic study of five couples [PDF]
, 2011 The deficiency of the enzyme 21-hydroxylase (21-HO) is responsible for about 90% to 95% of all cases of congenital adrenal hyperplasia (HCSR). This disorder is one of the most frequent hereditary illnesses of autosomal recessive trait. The illness can be
Baptista, C +7 more
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Tạp chí Y học Việt NamTăng sản thượng thận bẩm sinh (TSTTBS) là bệnh di truyền lặn trên nhiễm sắc thể thường do thiếu hụt enzyme 21-hydroxylase. Sự thiếu hụt enzyme 21-hydroxylase xảy ra do các đột biến trên gen CYP21A2, trong đó khoảng 60% bệnh nhân TSTTBS mang các đột biến ...
N. Nguyễn, Bắc An Lương, A. Hoàng
semanticscholar +1 more source
Uptake rate of carrier screening among consanguineous couples
Prenatal Diagnosis, Volume 44, Issue 12, Page 1470-1478, November 2024.Abstract Objective To quantify the uptake rates of Carrier Screening (CS) in consanguineous couples and compare this rate to that of non‐consanguineous couples. Methods We performed a matched case control study of 82 consanguineous couples seen at Rutgers‐Robert Wood Johnson Medical school who were offered carrier screening between January 1, 2012 and ...
Julianne Ricca +3 more
wiley +1 more source
Indian Journal of Endocrinology and MetabolismCongenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the CYP21A2 gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD).
Lavanya Ravichandran +4 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.We revealed a genetic link between atopic dermatitis and bullous pemphigoid, which is associated with biological pleiotropy and causality. Awareness of the association between BP and AD helps dermatologists manage patients with these illnesses. ABSTRACT Background Bullous pemphigoid (BP) and atopic dermatitis (AD) are currently thought to be tightly ...
Qing Wang +9 more
wiley +1 more source
Molecules, 2014 Major rooibos flavonoids—dihydrochalcones, aspalathin and nothofagin, flavones—orientin and vitexin, and a flavonol, rutin, were investigated to determine their influence on the activity of adrenal steroidogenic enzymes, 3β-hydroxysteroid dehydrogenase ...
Lindie Schloms, Amanda C. Swart
doaj +1 more source
Nonclassic Congenital Adrenal Hyperplasia (NCCAH) Due to 21-Hydroxylase Deficiency: Clinical Management and Genetic Counseling of Two Portuguese Families [PDF]
, 2016 Introduction: Congenital adrenal hyperplasia (CAH) due to 21-Hydroxylase deficiency occurs in 90-95% of cases, being a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood ...
Antunes, Diana +4 more
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Long‐term health consequences of congenital adrenal hyperplasia
Clinical Endocrinology, Volume 101, Issue 4, Page 318-331, October 2024.Abstract Congenital adrenal hyperplasia (CAH) caused by 21‐hydroxylase deficiency accounts for 95% of all CAH cases and is one of the most common inborn metabolic conditions. The introduction of life‐saving glucocorticoid replacement therapy 70 years ago has changed the perception of CAH from a paediatric disorder into a lifelong, chronic condition ...
Riccardo Pofi +3 more
wiley +1 more source
Importância funcional de novas variações nucleotídicas no gene CYP21A2 [PDF]
, 2018 Orientadores: Maricilda Palandi de Mello, Svetlana Lajic, Michela BarbaroTese (doutorado) - Universidade Estadual de Campinas, Instituto de BiologiaResumo: A Hiperplasia Adrenal Congênita (HAC), uma das desordens autossômicas recessivas mais frequentes ...
Michelatto, Débora de Paula, 1987-
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