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Results: 1 to 20 of 322

1.

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.

2.

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
3.

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 Jan 30;62(1):101-6. doi: 10.1507/endocrj.EJ14-0437. Epub 2014 Oct 15.

4.

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
5.

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
6.

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
7.

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.

PMID:
25247661
8.

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
9.

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
10.

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
11.

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
12.

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
13.

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.

14.

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
15.
16.

Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants.

Sarafoglou K, Gaviglio A, Hietala A, Frogner G, Banks K, McCann M, Thomas W.

J Pediatr. 2014 May;164(5):1136-40. doi: 10.1016/j.jpeds.2014.01.038. Epub 2014 Feb 28.

PMID:
24582106
17.

A three-year follow-up of congenital adrenal hyperplasia newborn screening.

Pezzuti IL, Barra CB, Mantovani RM, Januário JN, Silva IN.

J Pediatr (Rio J). 2014 May-Jun;90(3):300-7. doi: 10.1016/j.jped.2013.09.007. Epub 2014 Feb 18.

18.

Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia.

Falhammar H, Nyström HF, Thorén M.

Endocrine. 2014 Sep;47(1):299-307. doi: 10.1007/s12020-013-0161-2. Epub 2014 Jan 10.

PMID:
24408051
19.

[Do we need congenital adrenal hyperplasia screening for premature infants?].

Huet F, Godefroy A, Cheillan D, Somma C, Roussey M.

Arch Pediatr. 2014 Feb;21(2):233-6. doi: 10.1016/j.arcped.2013.11.002. Epub 2013 Dec 18. French.

PMID:
24361036
20.

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Falhammar H, Butwicka A, Landén M, Lichtenstein P, Nordenskjöld A, Nordenström A, Frisén L.

J Clin Endocrinol Metab. 2014 Mar;99(3):E554-60. doi: 10.1210/jc.2013-3707. Epub 2013 Dec 3.

PMID:
24302749
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