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Items: 1 to 20 of 114

1.

Is it time to commence newborn screening for congenital adrenal hyperplasia in Australia?

Wu JY, Sudeep, Cowley DM, Harris M, McGown IN, Cotterill AM.

Med J Aust. 2011 Sep 5;195(5):260-2.

PMID:
21895585
2.
3.

Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.

Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.

J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):19-29. Review.

PMID:
10418977
4.

Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.

Coulm B, Coste J, Tardy V, Ecosse E, Roussey M, Morel Y, Carel JC; DHCSF Study Group.

Arch Pediatr Adolesc Med. 2012 Feb;166(2):113-20. doi: 10.1001/archpediatrics.2011.774.

PMID:
22312171
5.

Newborn screening for congenital adrenal hyperplasia.

Therrell BL.

Endocrinol Metab Clin North Am. 2001 Mar;30(1):15-30. Review.

PMID:
11344933
6.

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.

7.

Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia.

Gleeson HK, Wiley V, Wilcken B, Elliott E, Cowell C, Thonsett M, Byrne G, Ambler G.

J Paediatr Child Health. 2008 Oct;44(10):554-9. doi: 10.1111/j.1440-1754.2008.01383.x.

PMID:
19012627
8.

Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.

Theodoropoulou M, Barta C, Szoke M, Guttman A, Staub M, Niederland T, Sólyom J, Fekete G, Sasvari-Szekely M.

Fetal Diagn Ther. 2001 Jul-Aug;16(4):237-40.

PMID:
11399887
9.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.

Nimkarn S, New MI.

Ann N Y Acad Sci. 2010 Mar;1192:5-11. doi: 10.1111/j.1749-6632.2009.05225.x. Review.

PMID:
20392211
10.

Congenital adrenal hyperplasia: diagnostic advances.

Torresani T, Biason-Lauber A.

J Inherit Metab Dis. 2007 Aug;30(4):563-75. Epub 2007 Aug 10. Erratum in: J Inherit Metab Dis. 2007 Oct;30(5):832.

PMID:
17694353
11.

Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, Dobbins RH, Kling S, Fujieda K, Suwa S.

Pediatrics. 1988 Jun;81(6):866-74.

PMID:
3259306
12.

Newborn screening for congenital adrenal hyperplasia in Sapporo City: sixteen years experience.

Mikami A, Fukushi M, Oda H, Fujita K, Fujieda K.

Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:100-2.

PMID:
11400741
13.

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.

Dumic K, Krnic N, Skrabic V, Stipancic G, Cvijovic K, Kusec V, Stingl K.

Horm Res. 2009;72(5):310-4. doi: 10.1159/000245933. Epub 2009 Oct 19.

PMID:
19844117
14.

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
15.

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
16.

[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency].

Fujieda K, Mukai T.

Nihon Rinsho. 2004 Feb;62(2):361-7. Review. Japanese.

PMID:
14968546
17.

Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia.

Liivak K, Tobi S, Schlecht H, Tillmann V.

Horm Res. 2008;69(4):227-32. doi: 10.1159/000113023. Epub 2008 Jan 21.

PMID:
18204270
18.

Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Riepe FG, Sippell WG.

Rev Endocr Metab Disord. 2007 Dec;8(4):349-63. Review.

PMID:
17885806
19.

Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.

Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, Zappulla F.

Pediatrics. 1996 Sep;98(3 Pt 1):362-7.

PMID:
8784357
20.

Neonatal screening for congenital adrenal hyperplasia.

White PC.

Nat Rev Endocrinol. 2009 Sep;5(9):490-8. doi: 10.1038/nrendo.2009.148. Review.

PMID:
19690561
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