The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant. [PDF]
Zhao Z+11 more
europepmc +1 more source
Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry [PDF]
Stefan A. Wudy+2 more
openalex +1 more source
Treatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency [PDF]
Fuqua, John S.+2 more
core +4 more sources
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency. [PDF]
Tippabathani J+6 more
europepmc +1 more source
Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III [PDF]
R de Carmo Silva+6 more
openalex +1 more source
Abstract Background and Purpose D‐amino acid oxidase (DAO) has been developed as a chemogenetic tool, to precisely manipulate redox levels in tissues and cells by generating H2O2 in the presence of D‐amino acids. The enzyme's significant oxygen consumption during H2O2 production may influence cellular oxygen levels.
Wiebke Maurer+10 more
wiley +1 more source
Variation in serum adrenal hormones in female 21-hydroxylase deficient patients. [PDF]
Sørensen DSD+3 more
europepmc +1 more source
Carrier Analysis and Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency in Chinese1 [PDF]
Hsien-Hsiung Lee+6 more
openalex +1 more source
ABSTRACT Objective Managing gastrointestinal symptoms in patients with phaeochromocytoma and paraganglioma (PPGL) is challenging due to the risk of catecholaminergic crisis with many commonly prescribed medications, especially in functional tumours.
Monica Majumder+5 more
wiley +1 more source
Molecular genetics and epidemiology of steroid 21-hydroxylase deficiency. [PDF]
Koppens, PFJ
core +2 more sources