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140 related items for PubMed ID: 12161496

  • 1. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.
    Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz EM, Shackleton CH, Reitz RE, Fisher DA.
    J Clin Endocrinol Metab; 2002 Aug; 87(8):3682-90. PubMed ID: 12161496
    [Abstract] [Full Text] [Related]

  • 2. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry.
    Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J.
    J Clin Endocrinol Metab; 2007 Jul; 92(7):2581-9. PubMed ID: 17456574
    [Abstract] [Full Text] [Related]

  • 3. Diagnosis of congenital adrenal hyperplasia by rapid determination of 17alpha-hydroxyprogesterone in dried blood spots by gas chromatography/mass spectrometry following microwave-assisted silylation.
    Deng C, Ji J, Zhang L, Zhang X.
    Rapid Commun Mass Spectrom; 2005 Jul; 19(20):2974-8. PubMed ID: 16178052
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.
    Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, Zappulla F.
    Pediatrics; 1996 Sep; 98(3 Pt 1):362-7. PubMed ID: 8784357
    [Abstract] [Full Text] [Related]

  • 6. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
    Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D.
    J Clin Endocrinol Metab; 2004 Aug; 89(8):3687-93. PubMed ID: 15292289
    [Abstract] [Full Text] [Related]

  • 7. Identification of enzyme deficiencies resulting in congenital adrenal hyperplasia.
    Sólyom J.
    Acta Biomed Ateneo Parmense; 1995 Aug; 66(3-4):99-104. PubMed ID: 8578942
    [Abstract] [Full Text] [Related]

  • 8. [Diagnosis of the adrenogenital syndrome caused by 11beta-hydroxylase deficiency using gas chromatographic-mass spectrometric analysis of the urinary steroid profile].
    Wudy SA, Homoki J, Wachter UA, Teller WM.
    Dtsch Med Wochenschr; 1997 Jan 03; 122(1-2):3-10; discussion 11. PubMed ID: 9064231
    [Abstract] [Full Text] [Related]

  • 9. 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 03; 24(5):280-5. PubMed ID: 3265870
    [Abstract] [Full Text] [Related]

  • 10. [Measurement of 17 OH progesterone in blood in Chilean newborns: antecedents for implementing a grogram for the neonatal detection of congenital adrenal hyperplasia].
    Cattani A, Reyes ML, Azócar M, Soto J, Romeo E, Valdivia L, Poggi H, Foradori A.
    Rev Med Chil; 2000 Oct 03; 128(10):1113-8. PubMed ID: 11349510
    [Abstract] [Full Text] [Related]

  • 11. False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values.
    Fingerhut R.
    Steroids; 2009 Aug 03; 74(8):662-5. PubMed ID: 19463687
    [Abstract] [Full Text] [Related]

  • 12. Detection of 3 beta-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis.
    Wolthers BG, de Vries IJ, Volmer M, Nagel GT.
    Clin Chim Acta; 1987 Oct 30; 169(1):109-16. PubMed ID: 3479282
    [Abstract] [Full Text] [Related]

  • 13. Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening.
    De Jesús VR, Simms DA, Schiffer J, Kennedy M, Mei JV, Hannon WH.
    Clin Chim Acta; 2010 Nov 11; 411(21-22):1684-7. PubMed ID: 20619255
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 156():10-6. PubMed ID: 26493852
    [Abstract] [Full Text] [Related]

  • 15. Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
    Lai CC, Tsai CH, Tsai FJ, Wu JY, Lin WD, Lee CC.
    J Clin Lab Anal; 2002 Feb 11; 16(1):20-5. PubMed ID: 11835526
    [Abstract] [Full Text] [Related]

  • 16. Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
    Podgórski R, Aebisher D, Stompor M, Podgórska D, Mazur A.
    Acta Biochim Pol; 2018 Feb 11; 65(1):25-33. PubMed ID: 29543924
    [Abstract] [Full Text] [Related]

  • 17. Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation.
    Seo JY, Park HD, Kim JW, Oh HJ, Yang JS, Chang YS, Park WS, Lee SY.
    J Perinat Med; 2014 Jan 11; 42(1):121-7. PubMed ID: 23989111
    [Abstract] [Full Text] [Related]

  • 18. Hormonal diagnosis of 21-hydroxylase deficiency in plasma and urine of neonates using benchtop gas chromatography-mass spectrometry.
    Wudy SA, Hartmann M, Homoki J.
    J Endocrinol; 2000 Jun 11; 165(3):679-83. PubMed ID: 10828852
    [Abstract] [Full Text] [Related]

  • 19. [Congenital adrenal hyperplasia].
    Stanić M, Nesović M.
    Med Pregl; 1999 Jun 11; 52(11-12):447-54. PubMed ID: 10748766
    [Abstract] [Full Text] [Related]

  • 20. [Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 3. An enzyme-linked immunosorbent assay for dried blood 17 alpha-hydroxyprogesterone].
    Fukushi M, Arai O, Mizushima Y, Takasugi N, Fujieda K, Matsuura N.
    Nihon Naibunpi Gakkai Zasshi; 1987 Feb 20; 63(2):113-22. PubMed ID: 3494638
    [Abstract] [Full Text] [Related]

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