Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype
about
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersWhy boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiationBackdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex developmentManagement of the adult with congenital adrenal hyperplasia.Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyConsequences of POR mutations and polymorphisms.Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesisClinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.The Diagnostics of Human Steroid Hormone Disorders.
P2860
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P2860
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@ast
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@en
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@nl
type
label
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@ast
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@en
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@nl
prefLabel
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@ast
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@en
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@nl
P356
P1476
Prenatal diagnosis of P450 oxi ...... tley-Bixler syndrome phenotype
@en
P2093
Berthold P Hauffa
Cedric Shackleton
P304
P356
10.1002/AJMG.A.30171
P407
P577
2004-08-30T00:00:00Z