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1999 2
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Page 1
P450 oxidoreductase deficiency and Antley-Bixler syndrome.
Arlt W. Arlt W. Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. doi: 10.1007/s11154-007-9056-y. Rev Endocr Metab Disord. 2007. PMID: 17960482 Review.
Antley-Bixler syndrome is a congenital malformation syndrome that primarily manifests with craniofacial abnormalities but may include skeletal malformations. ...While we begin to gain insight into the pathogenesis of disease, detailed genotype- …
Antley-Bixler syndrome is a congenital malformation syndrome that primarily manifests with craniofacial abnor …
[Advance in clinical research on Antley-Bixler syndrome].
Xie M, Wang H, Chen L, Li H, Li H. Xie M, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):280-283. doi: 10.3760/cma.j.issn.1003-9406.2018.02.031. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018. PMID: 29653011 Review. Chinese.
Antley-Bixler syndrome (ABS) is a rare childhood disorder affecting skeletal development. Some patients may also have genital anomalies and impaired steroidogenesis. Diagnostic criteria for ABS has not been fully established, though crani …
Antley-Bixler syndrome (ABS) is a rare childhood disorder affecting skeletal development. Some patients may also have …
Disordered follicle development.
Chang RJ, Cook-Andersen H. Chang RJ, et al. Mol Cell Endocrinol. 2013 Jul 5;373(1-2):51-60. doi: 10.1016/j.mce.2012.07.011. Epub 2012 Jul 31. Mol Cell Endocrinol. 2013. PMID: 22874072 Free PMC article. Review.
These include increased numbers of growing preantral follicles, failure of follicle growth beyond the mid-antral stage, evidence of granulosa call degeneration, and theca cell hyperplasia. Functional abnormalities include paradoxical granulosa cell hyperresponsiveness to F …
These include increased numbers of growing preantral follicles, failure of follicle growth beyond the mid-antral stage, evidence of granulos …
[Antley-Bixler syndrome or POR deficiency?].
Tomková M, Marohnic CC, Baxová A, Martásek P. Tomková M, et al. Cas Lek Cesk. 2008;147(5):261-5. Cas Lek Cesk. 2008. PMID: 18630181 Review. Czech.
Antley-Bixler syndrome (ABS) is a rare congenital disorder characterized by numerous craniofacial, skeletal and, in some cases, urogenital abnormalities resulting from disordered steroidogenesis. Known genetic causes in sporadic cases of …
Antley-Bixler syndrome (ABS) is a rare congenital disorder characterized by numerous craniofacial, skeletal and, in som …
Musculoskeletal manifestations of the Antley-Bixler syndrome.
Rumball KM, Pang E, Letts RM. Rumball KM, et al. J Pediatr Orthop B. 1999 Apr;8(2):139-43. J Pediatr Orthop B. 1999. PMID: 10218180 Review.
The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. ...
The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessm …
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 …
Disorders in the initial steps of steroid hormone synthesis.
Miller WL. Miller WL. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):18-37. doi: 10.1016/j.jsbmb.2016.03.009. Epub 2016 Mar 6. J Steroid Biochem Mol Biol. 2017. PMID: 26960203 Review.
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. ...Severe StAR mutations cause classic congenital lipoid adrenal hyperplasia, characterized by lipid accumulation in the adrena …
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of …
Physiological and Pathological Androgen Actions in the Ovary.
Astapova O, Minor BMN, Hammes SR. Astapova O, et al. Endocrinology. 2019 May 1;160(5):1166-1174. doi: 10.1210/en.2019-00101. Endocrinology. 2019. PMID: 30912811 Free PMC article. Review.
In addition, androgens are involved in regulating dynamic changes in ovarian steroidogenesis that are critical for normal cycling. Androgen effects on follicle development have been incorporated into clinical practice in women with diminished ovarian reserve, albeit with l …
In addition, androgens are involved in regulating dynamic changes in ovarian steroidogenesis that are critical for normal cycling. An …
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 …
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL. Miller WL. Eur J Endocrinol. 2018 Sep;179(3):R125-R141. doi: 10.1530/EJE-18-0279. Epub 2018 Jun 7. Eur J Endocrinol. 2018. PMID: 29880708 Review.
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with compensatory increases in ACTH leading to hyperplastic adrenals. ...These forms of CAH are easily understood on the basis of the biochemistr …
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders of adrenal steroidogenesis that impair cortisol synthesis, with …
26 results