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Results: 1 to 20 of 310

1.

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
[PubMed - in process]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - in process]
4.

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(1):29. doi: 10.1186/1472-6823-14-29.

PMID:
24694176
[PubMed]
Free PMC Article
5.

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.

PMID:
24622265
[PubMed - in process]
6.

Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder.

Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N.

Endocr J. 2014 Jun 29;61(6):629-33. Epub 2014 Mar 13.

PMID:
24621779
[PubMed - in process]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
24560529
[PubMed - in process]
Free Article
9.

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

Falhammar H, Nyström HF, Thorén M.

Endocrine. 2014 Jan 10. [Epub ahead of print]

PMID:
24408051
[PubMed - as supplied by publisher]
10.

[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
[PubMed - in process]
11.

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
[PubMed - in process]
12.

Congenital adrenal hyperplasia: issues in diagnosis and treatment in children.

Sharma R, Seth A.

Indian J Pediatr. 2014 Feb;81(2):178-85. doi: 10.1007/s12098-013-1280-8. Epub 2013 Nov 20.

PMID:
24254335
[PubMed - in process]
13.

No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.

Hird BE, Tetlow L, Tobi S, Patel L, Clayton PE.

Arch Dis Child. 2014 Feb;99(2):158-64. doi: 10.1136/archdischild-2013-304473. Epub 2013 Nov 13.

PMID:
24225272
[PubMed - indexed for MEDLINE]
14.

Brain white matter abnormality in a newborn infant with congenital adrenal hyperplasia.

Kaga A, Saito-Hakoda A, Uematsu M, Kamimura M, Kanno J, Kure S, Fujiwara I.

Clin Pediatr Endocrinol. 2013 Oct;22(4):77-81. doi: 10.1292/cpe.22.77. Epub 2013 Oct 26.

PMID:
24170965
[PubMed]
Free PMC Article
15.

Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance.

Knowles RL, Khalid JM, Oerton JM, Hindmarsh PC, Kelnar CJ, Dezateux C.

Arch Dis Child. 2014 Jan;99(1):30-4. doi: 10.1136/archdischild-2012-303070. Epub 2013 Sep 16.

PMID:
24043550
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

[How and when to evaluate hypospadias?].

Bouvattier C.

Arch Pediatr. 2013 Sep;20 Suppl 1:S5-S10. doi: 10.1016/S0929-693X(13)71403-9. French.

PMID:
23992834
[PubMed - indexed for MEDLINE]
17.

Diagnosis and management of classical congenital adrenal hyperplasia.

Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC.

Steroids. 2013 Aug;78(8):741-6. doi: 10.1016/j.steroids.2013.04.007. Epub 2013 Apr 25.

PMID:
23624029
[PubMed - indexed for MEDLINE]
18.

Optimizing newborn screening for congenital adrenal hyperplasia.

White PC.

J Pediatr. 2013 Jul;163(1):10-2. doi: 10.1016/j.jpeds.2013.02.008. Epub 2013 Mar 20. No abstract available.

PMID:
23522380
[PubMed - indexed for MEDLINE]
19.

Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience.

González EC, Carvajal F, Frómeta A, Arteaga AL, Castells EM, Espinosa T, Coto R, Pérez PL, Tejeda Y, Del Río L, Segura MT, Almenares P, Robaina R, Fernández JL.

Clin Chim Acta. 2013 Jun 5;421:73-8. doi: 10.1016/j.cca.2013.02.020. Epub 2013 Feb 26.

PMID:
23481450
[PubMed - indexed for MEDLINE]
20.

Congenital adrenal hyperplasia and the second newborn screen.

Chan CL, McFann K, Taylor L, Wright D, Zeitler PS, Barker JM.

J Pediatr. 2013 Jul;163(1):109-13.e1. doi: 10.1016/j.jpeds.2013.01.002. Epub 2013 Feb 12. Erratum in: J Pediatr. 2013 Jul;163(1):308.

PMID:
23414665
[PubMed - indexed for MEDLINE]

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