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Items: 1 to 20 of 339

1.

Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

Hoehn T, Lukacs Z, Huckenbeck W, Torresani T, Blankenstein O, Bounnack S.

J Trop Pediatr. 2015 Dec 31. pii: fmv078. [Epub ahead of print]

PMID:
26721550
2.

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).

Mass Screening Committee; Japanese Society for Pediatric Endocrinology; Japanese Society for Mass Screening, Ishii T, Anzo M, Adachi M, Onigata K, Kusuda S, Nagasaki K, Harada S, Horikawa R, Minagawa M, Minamitani K, Mizuno H, Yamakami Y, Fukushi M, Tajima T.

Clin Pediatr Endocrinol. 2015 Jul;24(3):77-105. doi: 10.1297/cpe.24.77. Epub 2015 Jul 18.

3.

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life.

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

Eur J Endocrinol. 2016 Feb;174(2):177-86. doi: 10.1530/EJE-15-0775. Epub 2015 Nov 12.

PMID:
26563979
4.

Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants.

Kamrath C, Hartmann MF, Boettcher C, Zimmer KP, Wudy SA.

J Steroid Biochem Mol Biol. 2016 Feb;156:10-6. doi: 10.1016/j.jsbmb.2015.10.013. Epub 2015 Oct 19.

PMID:
26493852
5.

Biochemical and genetic diagnosis of 21-hydroxylase deficiency.

Falhammar H, Wedell A, Nordenström A.

Endocrine. 2015 Nov;50(2):306-14. doi: 10.1007/s12020-015-0731-6. Epub 2015 Sep 4.

PMID:
26336836
6.

The status of neonatal screening in China, 2013.

Zhong K, Wang W, He F, Wang Z.

J Med Screen. 2015 Aug 3. pii: 0969141315597715. [Epub ahead of print]

PMID:
26238341
7.

Measurement of Serum 17α-Hydroxyprogesterone in Infants by Radioimmunoassay.

Muñoz LN, Ochetti M, Perez G, Sobrero GM, Silvano LK, Martin SE, Testa GM, Miras MB.

Pediatr Endocrinol Rev. 2015 Jun;12(4):366-72.

PMID:
26182481
8.

Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.

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

J Clin Endocrinol Metab. 2015 Sep;100(9):3520-8. doi: 10.1210/JC.2015-2093. Epub 2015 Jun 30.

PMID:
26126207
9.

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 Sep;227(5):278-83. doi: 10.1055/s-0035-1554639. Epub 2015 Jun 19.

PMID:
26090996
10.

Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

Kashimada K, Ishii T, Nagasaki K, Ono M, Tajima T, Yokota I, Hasegawa Y.

Endocr J. 2015;62(3):277-82. doi: 10.1507/endocrj.EJ14-0377. Epub 2015 Jan 21.

11.

Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report.

Durković J, Milenković T, Krone N, Parajes S, Mandić B.

Srp Arh Celok Lek. 2014 Nov-Dec;142(11-12):728-31.

12.

Keeping the pressure on mineralocorticoid replacement in congenital adrenal hyperplasia.

Krone N, Webb EA, Hindmarsh PC.

Clin Endocrinol (Oxf). 2015 Apr;82(4):478-80. doi: 10.1111/cen.12700. Epub 2015 Feb 20. No abstract available.

PMID:
25510524
13.

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
14.

[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
15.

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.

16.

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
17.

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.

18.

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
19.

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
20.

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
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