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Results: 1 to 20 of 313

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 - indexed for MEDLINE]
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 - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
6.

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]
7.

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
8.

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]
9.

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
10.

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
[PubMed - in process]
11.

[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]
12.

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 - indexed for MEDLINE]
13.

Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia.

Mitchell ML, Hsu HW, Sahai I.

Curr Opin Endocrinol Diabetes Obes. 2014 Feb;21(1):39-44. doi: 10.1097/MED.0000000000000028. Review.

PMID:
24275619
[PubMed - indexed for MEDLINE]
14.

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]
15.

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]
16.

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
17.

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
18.

[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]
19.

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;42(1):121-7. doi: 10.1515/jpm-2013-0154.

PMID:
23989111
[PubMed - indexed for MEDLINE]
20.

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]

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