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hydroxylase

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Book Chapter
Series: Contributions to Nephrology
Volume: 198
Published: 07 May 2019
10.1159/000496531
EISBN: 978-3-318-06424-7
... Abstract Background: Hypoxia-inducible factor (HIF) stabilizers, also known as inhibitors of HIF prolyl hydroxylase domain (PHD) inhibitors enzymes, are novel small-molecule agents to treat renal anemia. They increase endogenous erythropoietin (EPO) production by stabilizing HIF...
Book Chapter
Series: Frontiers of Hormone Research
Volume: 40
Published: 19 October 2012
10.1159/000342179
EISBN: 978-3-318-02239-1
... Abstract Non-classic adrenal hyperplasia (NCAH) is a disease in which a partial deficiency of the steroidogenic enzyme 21-hydroxylase produces mild to moderate hyperandrogenemia, hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, insulin resistance, male pattern baldness...
Book Chapter
Series: Endocrine Development
Volume: 20
Published: 17 December 2010
10.1159/000321223
EISBN: 978-3-8055-9644-2
... Abstract More than 95% of all cases of congenital adrenal hyperplasia are caused by deficiency of steroid 21-hydroxylase, an enzyme encoded by the CYP21A2 gene. The severity of the clinical symptoms varies according to the level of residual 21-hydroxylase activity. The CYP21A2 gene...
Book Chapter
Series: Endocrine Development
Volume: 20
Published: 17 December 2010
10.1159/000321225
EISBN: 978-3-8055-9644-2
... Abstract The disturbance of the hypothalamic-pituitary- adrenal axis characteristic of congenital adrenal hyperplasia (CAH) due to 21- hydroxylase deficiency (21- OHD) is likely to affect brain development, yet neuroanatomic work is only beginning. Fetal hyperandrogenemia in 46, XX 21- OHD...
Book Chapter
Series: Endocrine Development
Volume: 20
Published: 17 December 2010
10.1159/000321228
EISBN: 978-3-8055-9644-2
..., larger retrospective studies using both direct and indirect assessment methods are needed. References References 1. David M, Forest MG: Prenatal treatment of congenital adrenal hyperplasia resulting from 21- hydroxylase deficiency. J Pediatr 1984;105:799-803 2. Goto M, Piper Hanley K, Marcos...
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Book Chapter
Series: Frontiers of Hormone Research
Volume: 53
Published: 16 October 2019
EISBN: 978-3-318-06471-1
... hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245–291. 3. Krone N, Dhir V, Ivison HE, Arlt W: Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol 2007;66:162–172. 4. Azziz R, Dewailly D, Owerbach D: Clinical review 56: nonclassic adrenal hyperplasia...
Book Chapter
Series: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
EISBN: 978-3-318-05840-6
...References References 1. New MI, Lekarev O, Mancenido D, Parsa P, Yuen T: Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency; New MI (ed): Genetic Steroid Disorders. San Francisco, Elsevier, 2014, pp 29-52. 2. New MI: Extensive clinical experience: nonclassical 21...
Book Chapter
Series: Endocrine Development
Volume: 20
Published: 17 December 2010
EISBN: 978-3-8055-9644-2
...References References 1. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21- hydroxylase deficiency. Endocr Rev 2000;21:245-291 2. White PC, New MI, Dupont B: HLA- linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P- 450 specific...
Book Chapter
Series: Endocrine Development
Volume: 33
Published: 28 June 2018
EISBN: 978-3-318-06143-7
..., Sun L, Zaidi M, Wilson RC, Yuen T: Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci USA 2013;12:2611-2616. 4. White PC, Speiser PW: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev...
Book Chapter
Series: Contributions to Nephrology
Volume: 198
Published: 07 May 2019
EISBN: 978-3-318-06424-7
... disease: harnessing hypoxia responses for therapy. Nat Rev Nephrol 2015; 11: 394–410. 3. Maxwell PH, Eckardt KU: HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond. Nat Rev Nephrol 2016; 12: 157–168. 4. Rosenberger C, Mandriota S, Jurgensen JS, Wiesener MS, Horstrup JH...
Book Chapter
Series: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
10.1159/000443919
EISBN: 978-3-318-05840-6
... Abstract Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular...