Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
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Substrate-specific modulation of CYP3A4 activity by genetic variants of cytochrome P450 oxidoreductaseThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersNonclassic congenital adrenal hyperplasiaIdentification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.Transcriptional regulation of the human P450 oxidoreductase gene: hormonal regulation and influence of promoter polymorphisms.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Clinical and molecular review of atypical congenital adrenal hyperplasiaGenotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyConsequences of POR mutations and polymorphisms.Disorder of sex development as a diagnostic clue in the first Spanish known newborn with P450 oxidoreductase deficiency.Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.17-Hydroxyprogesterone in children, adolescents and adults.Electron transfer by human wild-type and A287P mutant P450 oxidoreductase assessed by transient kinetics: functional basis of P450 oxidoreductase deficiency.A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.Diagnosis and management of rare forms of CAH.Congenital Adrenal Hyperplasia.
P2860
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P2860
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 October 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Clinical, genetic, and enzymat ...... e deficiency in four patients.
@en
Clinical, genetic, and enzymat ...... e deficiency in four patients.
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type
label
Clinical, genetic, and enzymat ...... e deficiency in four patients.
@en
Clinical, genetic, and enzymat ...... e deficiency in four patients.
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prefLabel
Clinical, genetic, and enzymat ...... e deficiency in four patients.
@en
Clinical, genetic, and enzymat ...... e deficiency in four patients.
@nl
P2093
P2860
P356
P1476
Clinical, genetic, and enzymat ...... se deficiency in four patients
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P2093
Claude J Migeon
Meng Kian Tee
Ningwu Huang
Nuala Murphy
Patricia Crock
Taninee Sahakitrungruang
Walter L Miller
William E Russell
P2860
P304
P356
10.1210/JC.2009-1460
P407
P577
2009-10-16T00:00:00Z