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2004 1
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2013 2
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Page 1
Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
Oldani E, Garel C, Bucourt M, Carbillon L. Oldani E, et al. Am J Case Rep. 2015 Dec 16;16:882-5. doi: 10.12659/ajcr.895526. Am J Case Rep. 2015. PMID: 26670660 Free PMC article.
However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment....
However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to …
Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.
Wang C, Tian Q. Wang C, et al. Front Endocrinol (Lausanne). 2023 Aug 11;14:1226387. doi: 10.3389/fendo.2023.1226387. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37635957 Free PMC article. Review.
Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of ruptured ovarian macro-cysts, and life-threatening conditions such as airway obstruction and adrenal crisis. The clinical outcomes and prognosis …
Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of rupture …
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.
Moutinho D, Marohnic CC, Panda SP, Rueff J, Masters BS, Kranendonk M. Moutinho D, et al. Drug Metab Dispos. 2012 Apr;40(4):754-60. doi: 10.1124/dmd.111.042820. Epub 2012 Jan 17. Drug Metab Dispos. 2012. PMID: 22252407 Free PMC article.
Our data indicate the importance of use of simulated, validated in vitro systems, employing full-length proteins with appropriate stoichiometric incorporation of protein partners, when pharmacogenetic predictions are to be made for P450-mediated biotransformation....
Our data indicate the importance of use of simulated, validated in vitro systems, employing full-length proteins with appropriate stoichiome …
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL. Miller WL. Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Sci Signal. 2012. PMID: 23092891 Review.
Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combination must be studied individually. ...
Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combi …
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.
Shackleton C, Marcos J, Arlt W, Hauffa BP. Shackleton C, et al. Am J Med Genet A. 2004 Aug 30;129A(2):105-12. doi: 10.1002/ajmg.a.30171. Am J Med Genet A. 2004. PMID: 15316970
The mother showed signs of virilization by the 23rd week of gestation and aromatase deficiency was suspected. However, predicted urinary metabolites for diagnosis of aromatase deficiency (for example, 16alpha-hydroxyandrosterone) were not increased significantly during the …
The mother showed signs of virilization by the 23rd week of gestation and aromatase deficiency was suspected. However, predicted urin …
Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
Boia ES, Popoiu MC, Puiu M, Stanciulescu CM, David VL. Boia ES, et al. Med Princ Pract. 2014;23(4):384-6. doi: 10.1159/000356857. Epub 2013 Dec 10. Med Princ Pract. 2014. PMID: 24334858 Free PMC article.
A surgical intervention was performed to correct the ambiguous genitalia through a combined perineal and transabdominal approach. RESULTS: The postoperative course was uneventful and the patient was released from the hospital 10 days after the surgery. ...
A surgical intervention was performed to correct the ambiguous genitalia through a combined perineal and transabdominal approach. RESULTS: T …
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Tomalik-Scharte D, Maiter D, Kirchheiner J, Ivison HE, Fuhr U, Arlt W. Tomalik-Scharte D, et al. Eur J Endocrinol. 2010 Dec;163(6):919-24. doi: 10.1530/EJE-10-0764. Epub 2010 Sep 15. Eur J Endocrinol. 2010. PMID: 20844025 Free PMC article.
We also performed genotyping for variant CYP alleles known to affect drug metabolism. RESULTS: Though CYP enzyme genotyping predicted normal or high enzymatic activities in both subjects, in vivo assessment showed subnormal activities of CYP1A2, CYP2C9, CYP2D6 and CYP3A4 i …
We also performed genotyping for variant CYP alleles known to affect drug metabolism. RESULTS: Though CYP enzyme genotyping predicted …
11 results