Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersCongenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineRecent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyPitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasiaGlucocorticoid-induced osteoporosis in children with 21-hydroxylase deficiencyReproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciencyThe Increasing Prevalence in Intersex Variation from Toxicological Dysregulation in Fetal Reproductive Tissue Differentiation and Development by Endocrine-Disrupting ChemicalsIs physiological glucocorticoid replacement important in children?Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGEAn overview of molecular diagnosis of steroid 21-hydroxylase deficiencyFunctional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneAdult patients with congenital adrenal hyperplasia have elevated blood pressure but otherwise a normal cardiovascular risk profilePrenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour.C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autismHigh frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency.An improved micro-method for the measurement of steroid profiles by APPI-LC-MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH.A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyGenotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single centerDevelopment and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.Nocturnal Dexamethasone versus Hydrocortisone for the Treatment of Children with Congenital Adrenal HyperplasiaCommon genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency.A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase DeficiencyThree-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variantsHuman leukocyte antigen gene polymorphism and the histocompatibility laboratoryCardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish childrenImpact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiencyAdrenal and thyroid function in the fetus and preterm infant.Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual developmentGuidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation InitiativeWhy is management of patients with classical congenital adrenal hyperplasia more difficult at puberty?Working memory performance is reduced in children with congenital adrenal hyperplasia
P2860
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P2860
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
description
2000 nî lūn-bûn
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2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2000 թվականի հունիսին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@ast
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@en
type
label
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@ast
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@en
prefLabel
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@ast
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@en
P356
P1433
P1476
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
@en
P2093
P W Speiser
P304
P356
10.1210/EDRV.21.3.0398
P577
2000-06-01T00:00:00Z