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P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.
Flück CE, Miller WL. Flück CE, et al. Curr Opin Pediatr. 2006 Aug;18(4):435-41. doi: 10.1097/01.mop.0000236395.71956.5c. Curr Opin Pediatr. 2006. PMID: 16915000 Review.
The often subtle manifestations of P450 oxidoreductase deficiency suggest it may be relatively common. P450 oxidoreductase deficiency, with or without Antley-Bixler syndrome, is autosomal recessive, whereas Antley-Bixler syndrome without …
The often subtle manifestations of P450 oxidoreductase deficiency suggest it may be relatively common. P450 oxidoreductase deficiency, with …
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CNS structural anomalies. In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neur …
Known enzyme defects along the cholesterol biosynthetic pathway result in a host of neurodevelopmental and behavioral findings along with CN …
Clinical and biochemical consequences of p450 oxidoreductase deficiency.
Flück CE, Pandey AV. Flück CE, et al. Endocr Dev. 2011;20:63-79. doi: 10.1159/000321221. Epub 2010 Dec 16. Endocr Dev. 2011. PMID: 21164260 Review.
Patients with P450 oxidoreductase (POR) deficiency typically present with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley-Bixler craniosynostosis syndrome. ...POR is the obligate electron donor to all micros …
Patients with P450 oxidoreductase (POR) deficiency typically present with adrenal insufficiency, genital anomalies and bony ma …
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.
Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL. Flück CE, et al. Endocr Dev. 2008;13:67-81. doi: 10.1159/000134826. Endocr Dev. 2008. PMID: 18493134 Review.
Patients with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley- Bixler syndrome (a craniosynostosis syndrome), are likely to have P450 oxidoreductase (POR) deficiency. ...POR is the obligate electron d …
Patients with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley- Bixler s …