Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

논문상세정보
' Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency' 의 주제별 논문영향력
논문영향력 선정 방법
논문영향력 요약
주제
  • Cytochrome P450 oxidoreductase deficiency
  • POR
  • disordersofsexdevelopment
동일주제 총논문수 논문피인용 총횟수 주제별 논문영향력의 평균
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' Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency' 의 참고문헌

  • Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
    Hyewon Woo [2016]
  • The 2017 Korean National Growth Charts for children and adolescents: development, improvement, and prospects
    김재현 [2018]
  • Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
    Idkowiak J [2011]
  • POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait
    Adachi M [2006]
  • P450 oxidoreductase deficiency-a new form of congenital adrenal hyperplasia
    Flück CE [2008]
  • P450 Oxidoreductase deficiency: analysis of mutations and polymorphisms
    Burkhard FZ [2017]
  • Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
    Flück CE [2004]
  • Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation:implications of Hedgehog signaling
    Gofflot F [2003]
  • Minireview : regulation of steroidogenesis by electron transfer
    Miller WL [2005]
  • Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia
    Peterson RE [1985]
  • Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency
  • Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
  • Hypertension in infancy : Diagnosis, management and outcome
    Dionne JM [2012]
  • Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
    Huang N [2005]
  • Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects
    Fukami M [2014]
  • Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35Japanese patients
    Fukami M [2009]
  • Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid
    Laue K [2011]
  • Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis : analytical study
    Arlt W [2004]
  • Compound heterozygous mutations of cytochrome P450 oxidoreductase gene(POR)in two patients with Antley-Bixler syndrome
    Adachi M [2004]
  • Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients
  • Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes?
    Bulun SE [1996]
  • Clinical practice guideline for screening and management of high blood pressure in children and adolescents
    Flynn JT [2017]
  • Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development
    Fukami M [2013]
  • A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene
    Ko JM [2009]
  • A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
    오종원 [2017]
  • 5alpha-androstane-3alpha,17betadiol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate
    Wilson JD [2003]