155 related items for PubMed ID: 22273564
1. Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Hasegawa T, Murata M.
Clin Chem; 2012 Apr; 58(4):741-7. PubMed ID: 22273564
[Abstract] [Full Text] [Related]
2. Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, Hasegawa T.
Clin Pediatr Endocrinol; 2016 Apr; 25(2):37-44. PubMed ID: 27212795
[Abstract] [Full Text] [Related]
3. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T.
J Clin Endocrinol Metab; 2006 Jul; 91(7):2643-9. PubMed ID: 16608896
[Abstract] [Full Text] [Related]
4. Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates.
Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, Toyoura T, Jinno K, Ohashi T, Hamajima T, Takahashi Y, Takahashi T, Matsuo N.
J Clin Endocrinol Metab; 2004 Dec; 89(12):6087-91. PubMed ID: 15579762
[Abstract] [Full Text] [Related]
5. New strategies for detecting steroid metabolic disorders--paneling vs profiling.
Taylor NF, Chan AO.
Clin Chem; 2012 Aug; 58(8):1262-3. PubMed ID: 22626831
[No Abstract] [Full Text] [Related]
6. Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants.
Kamrath C, Hartmann MF, Boettcher C, Zimmer KP, Wudy SA.
J Steroid Biochem Mol Biol; 2016 Feb; 156():10-6. PubMed ID: 26493852
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7. Reduced activity of 11β-hydroxylase accounts for elevated 17α-hydroxyprogesterone in preterms.
Kamrath C, Hartmann MF, Boettcher C, Wudy SA.
J Pediatr; 2014 Aug; 165(2):280-4. PubMed ID: 24862381
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8. Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W.
J Clin Endocrinol Metab; 2013 Mar; 98(3):E528-36. PubMed ID: 23365120
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9. Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia.
Kamrath C, Wettstaedt L, Boettcher C, Hartmann MF, Wudy SA.
J Steroid Biochem Mol Biol; 2018 Apr; 178():221-228. PubMed ID: 29277706
[Abstract] [Full Text] [Related]
10. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T.
Pediatr Res; 2006 Feb; 59(2):276-80. PubMed ID: 16439592
[Abstract] [Full Text] [Related]
11. Late-onset 21-hydroxylase deficiency: reliable diagnosis by steroid analysis of random urine collections.
Shackleton CH, Irias J, McDonald C, Imperato-McGinley J.
Steroids; 1986 Feb; 48(3-4):239-50. PubMed ID: 3502202
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12. Modified-Release and Conventional Glucocorticoids and Diurnal Androgen Excretion in Congenital Adrenal Hyperplasia.
Jones CM, Mallappa A, Reisch N, Nikolaou N, Krone N, Hughes BA, O'Neil DM, Whitaker MJ, Tomlinson JW, Storbeck KH, Merke DP, Ross RJ, Arlt W.
J Clin Endocrinol Metab; 2017 Jun 01; 102(6):1797-1806. PubMed ID: 27845856
[Abstract] [Full Text] [Related]
13. [Reevaluation of recalled infants by neonatal mass screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Diagnostic value of pregnanetriolone in a single urine specimen using glass capillary gas chromatography].
Hikita Y.
Nihon Naibunpi Gakkai Zasshi; 1985 Mar 20; 61(3):197-219. PubMed ID: 3874793
[Abstract] [Full Text] [Related]
14. Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report.
Sumińska M, Bogusz-Górna K, Wegner D, Fichna M.
Int J Mol Sci; 2020 Jun 29; 21(13):. PubMed ID: 32610579
[Abstract] [Full Text] [Related]
15. Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids.
Yong AB, Pitt JJ, Montalto J, Davies HE, Warne GL, Connelly JF.
Aust Paediatr J; 1988 Oct 29; 24(5):280-5. PubMed ID: 3265870
[Abstract] [Full Text] [Related]
16. The urinary steroidome of treated children with classic 21-hydroxylase deficiency.
Kamrath C, Wettstaedt L, Boettcher C, Hartmann MF, Wudy SA.
J Steroid Biochem Mol Biol; 2017 Jan 29; 165(Pt B):396-406. PubMed ID: 27544322
[Abstract] [Full Text] [Related]
17. Metabotypes of congenital adrenal hyperplasia in infants determined by gas chromatography-mass spectrometry in spot urine.
Kamrath C, Friedrich C, Hartmann MF, Wudy SA.
J Steroid Biochem Mol Biol; 2023 Jul 29; 231():106304. PubMed ID: 36990162
[Abstract] [Full Text] [Related]
18. The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern.
van der Ploeg KR, Wolthers BG, Nagel GT, Volmer M, Drayer NM.
Clin Chim Acta; 1982 Apr 23; 120(3):341-53. PubMed ID: 6978779
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19. Genetics of congenital adrenal hyperplasia.
Krone N, Arlt W.
Best Pract Res Clin Endocrinol Metab; 2009 Apr 23; 23(2):181-92. PubMed ID: 19500762
[Abstract] [Full Text] [Related]
20. Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities.
Iijima S, Ohishi A, Ohzeki T.
J Pediatr Endocrinol Metab; 2009 May 23; 22(5):469-75. PubMed ID: 19618668
[Abstract] [Full Text] [Related]
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