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Results: 1 to 20 of 328

1.

Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency: a Swedish population-based national cohort study.

Falhammar H, Frisén L, Linden Hirschberg A, Norrby C, Almqvist C, Nordenskjöld A, Nordenström A.

J Clin Endocrinol Metab. 2015 Jun 30:JC20152093. [Epub ahead of print]

PMID:
26126207
2.

Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria.

Odenwald B, Dörr HG, Bonfig W, Schmidt H, Fingerhut R, Wildner M, Nennstiel-Ratzel U.

Klin Padiatr. 2015 Jun 19. [Epub ahead of print]

PMID:
26090996
3.

Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013.

Heather NL, Seneviratne SN, Webster D, Derraik JG, Jefferies C, Carll J, Jiang Y, Cutfield WS, Hofman PL.

J Clin Endocrinol Metab. 2015 Mar;100(3):1002-8. doi: 10.1210/jc.2014-3168. Epub 2014 Dec 12.

PMID:
25494862
4.

[Multicenter investigation on the impact of newborn infants' gestational age and birth weight on the level of 17α-hydroxyprogesterone].

Zhang Q, Wang B, Chen Y, Jiang D, Chen Y.

Zhonghua Er Ke Za Zhi. 2014 Sep;52(9):706-9. Chinese.

PMID:
25476436
5.

Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia.

Nascimento ML, Cristiano AN, Campos Td, Ohira M, Cechinel E, Simoni G, Lee Jv, Linhares RM, Silva PC.

Arq Bras Endocrinol Metabol. 2014 Oct;58(7):765-71.

6.

Hormonal disturbances due to severe and mild forms of congenital adrenal hyperplasia are already detectable in neonatal life.

Faurschou S, Mouritsen A, Johannsen TH, Hougaard DM, Cohen A, Duno M, Juul A, Main KM.

Acta Paediatr. 2015 Feb;104(2):e57-62. doi: 10.1111/apa.12835. Epub 2014 Nov 17.

PMID:
25346389
7.

A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.

Kawashima Y, Usui T, Fujimoto M, Miyahara N, Nishimura R, Hanaki K, Kanzaki S.

Endocr J. 2015;62(1):101-6. doi: 10.1507/endocrj.EJ14-0437. Epub 2014 Oct 15.

8.

Does newborn screening have 100% sensitivity to detect salt wasting congenital adrenal hyperplasia?-Reply.

Gidlöf S, Nordenström A.

JAMA Pediatr. 2014 Oct;168(10):971. doi: 10.1001/jamapediatrics.2014.1508. No abstract available.

PMID:
25285872
9.

Does newborn screening have 100% sensitivity to detect salt-wasting congenital adrenal hyperplasia?: A word of caution.

Grosse SD, Sarafoglou K.

JAMA Pediatr. 2014 Oct;168(10):970-1. doi: 10.1001/jamapediatrics.2014.1505. No abstract available.

PMID:
25285869
10.

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Falhammar H, Frisén L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjöld A, Nordenström A.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2715-21. doi: 10.1210/jc.2014-2957.

PMID:
25279502
11.

Achieving diagnostic certainty in resource-limited settings.

Raza J, Mazen I.

Endocr Dev. 2014;27:257-67. doi: 10.1159/000363672. Epub 2014 Sep 9. Review.

PMID:
25247661
12.

3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.

Araújo VG, Oliveira RS, Gameleira KP, Cruz CB, Lofrano-Porto A.

Arq Bras Endocrinol Metabol. 2014 Aug;58(6):650-5.

13.

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

Al Hosani H, Salah M, Osman HM, Farag HM, El-Assiouty L, Saade D, Hertecant J.

East Mediterr Health J. 2014 Feb 11;20(1):17-23.

PMID:
24932929
14.

Newborn screening for metabolic diseases: saving children's lives and improving outcomes.

Bennett MJ.

Clin Biochem. 2014 Jun;47(9):693-4. doi: 10.1016/j.clinbiochem.2014.05.010. Epub 2014 Jun 2.

PMID:
24886768
15.

Neonatal endocrine emergencies: a primer for the emergency physician.

Park E, Pearson NM, Pillow MT, Toledo A.

Emerg Med Clin North Am. 2014 May;32(2):421-35. doi: 10.1016/j.emc.2014.01.003. Epub 2014 Feb 20. Review.

PMID:
24766941
16.

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

Gidlöf S, Wedell A, Guthenberg C, von Döbeln U, Nordenström A.

JAMA Pediatr. 2014 Jun;168(6):567-74. doi: 10.1001/jamapediatrics.2013.5321.

PMID:
24733564
17.

The value of time in assessing the effectiveness of newborn screening for congenital adrenal hyperplasia.

Tarini BA.

JAMA Pediatr. 2014 Jun;168(6):515-6. doi: 10.1001/jamapediatrics.2014.246. No abstract available.

PMID:
24733500
18.

The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene.

Hui E, Yeung MC, Cheung PT, Kwan E, Low L, Tan KC, Lam KS, Chan AO.

BMC Endocr Disord. 2014 Apr 3;14:29. doi: 10.1186/1472-6823-14-29.

19.

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, Nordenström A.

Lancet Diabetes Endocrinol. 2013 Sep;1(1):35-42. doi: 10.1016/S2213-8587(13)70007-X. Epub 2013 Feb 26. Erratum in: Lancet Diabetes Endocrinol. 2013 Aug;1 Suppl 1:s22.

PMID:
24622265
20.
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