Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 147

1.

Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing.

Janzen N, Riepe FG, Peter M, Sander S, Steuerwald U, Korsch E, Krull F, Müller HL, Heger S, Brack C, Sander J.

Horm Res Paediatr. 2012;77(3):195-9. doi: 10.1159/000337974. Epub 2012 Apr 13.

PMID:
22508345
[PubMed - indexed for MEDLINE]
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. Epub 2007 Apr 24.

PMID:
17456574
[PubMed - indexed for MEDLINE]
3.

A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS.

Peter M, Janzen N, Sander S, Korsch E, Riepe FG, Sander J.

Horm Res. 2008;69(4):253-6. doi: 10.1159/000113027. Epub 2008 Jan 21.

PMID:
18204274
[PubMed - indexed for MEDLINE]
4.

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.

Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D.

Clin Chem. 2004 Mar;50(3):621-5. Epub 2003 Dec 4.

PMID:
14656905
[PubMed - indexed for MEDLINE]
Free Article
5.

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia.

Cavarzere P, Samara-Boustani D, Flechtner I, Dechaux M, Elie C, Tardy V, Morel Y, Polak M.

Eur J Endocrinol. 2009 Aug;161(2):285-92. doi: 10.1530/EJE-09-0145. Epub 2009 May 18.

PMID:
19451212
[PubMed - indexed for MEDLINE]
Free Article
6.

Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.

Kösel S, Burggraf S, Fingerhut R, Dörr HG, Roscher AA, Olgemöller B.

Clin Chem. 2005 Feb;51(2):298-304. Epub 2004 Dec 17.

PMID:
15608154
[PubMed - indexed for MEDLINE]
Free Article
7.

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in the pre-screening era.

Lee CT, Tung YC, Hsiao PH, Lee JS, Tsai WY.

J Formos Med Assoc. 2010 Feb;109(2):148-55. doi: 10.1016/S0929-6646(10)60035-6.

PMID:
20206839
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
15292289
[PubMed - indexed for MEDLINE]
9.

Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience.

Schwarz E, Liu A, Randall H, Haslip C, Keune F, Murray M, Longo N, Pasquali M.

Pediatr Res. 2009 Aug;66(2):230-5. doi: 10.1203/PDR.0b013e3181aa3777.

PMID:
19390483
[PubMed - indexed for MEDLINE]
10.

Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels.

Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A.

J Pediatr. 1997 Jan;130(1):128-33.

PMID:
9003862
[PubMed - indexed for MEDLINE]
11.

Functional glucocorticoid receptor gene variants do not underlie the high variability of 17-hydroxyprogesterone screening values in healthy newborns.

Schreiner F, Tozakidou M, Maslak R, Holtkamp U, Peter M, Gohlke B, Woelfle J.

Eur J Endocrinol. 2009 Apr;160(4):667-73. doi: 10.1530/EJE-08-0639. Epub 2009 Jan 27.

PMID:
19174530
[PubMed - indexed for MEDLINE]
Free Article
12.

Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone.

Huidobro Fernández B, Echeverria Fernández M, Dulin Iñiguez E, Ezquieta Zubicaray B, Roldán Martín MB, Rodríguez Arnao MD, Rodríguez Sánchez A.

J Pediatr Endocrinol Metab. 2011;24(3-4):155-62.

PMID:
21648283
[PubMed - indexed for MEDLINE]
13.
14.

Cortisol in dried blood screening specimens from newborns with raised 17-hydroxyprogesterone and congenital adrenal hyperplasia.

Mitchell ML, Hermos RJ.

Clin Endocrinol (Oxf). 1998 Jun;48(6):757-60.

PMID:
9713565
[PubMed - indexed for MEDLINE]
15.

Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: application in congenital adrenal hyperplasia.

Fernandes VT, Ribeiro-Neto LM, Lima SB, Vieira JG, Verreschi IT, Kater CE.

J Chromatogr Sci. 2003 May-Jun;41(5):251-4.

PMID:
12841953
[PubMed - indexed for MEDLINE]
Free Article
16.

Simultaneous quantification of 17α-OH progesterone, 11-deoxycortisol, Δ4-androstenedione, cortisol and cortisone in newborn blood spots using liquid chromatography-tandem mass spectrometry.

Magnisali P, Chalioti MB, Livadara T, Mataragas M, Paliatsiou S, Malamitsi-Puchner A, Moutsatsou P.

J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Jun 1;879(19):1565-72. doi: 10.1016/j.jchromb.2011.03.048. Epub 2011 Apr 4.

PMID:
21514253
[PubMed - indexed for MEDLINE]
17.

The value of low dose (1 microg) ACTH stimulation test in the investigation of non-classic adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Unlühizarci K, Keleştimur F, Güven M, Bayram F, Colak R.

Exp Clin Endocrinol Diabetes. 2002 Nov;110(8):381-5.

PMID:
12518247
[PubMed - indexed for MEDLINE]
18.

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;74(8):662-5. doi: 10.1016/j.steroids.2009.02.008. Epub 2009 Mar 9.

PMID:
19463687
[PubMed - indexed for MEDLINE]
19.

Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency.

Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE.

J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21.

PMID:
16551734
[PubMed - indexed for MEDLINE]
20.

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk