-
1
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-91.
-
(2000)
Endocr Rev
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
77956588420
-
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline
-
Endocrine Society
-
Speiser PW, Azziz R, Baskin LS, et al. Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133-60.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 4133-4160
-
-
Speiser, P.W.1
Azziz, R.2
Baskin, L.S.3
-
4
-
-
84892809253
-
-
policy currently under review accessed 1 Aug 2013
-
UK National Screening Committee. UK NSC Policy database: Congenital Adrenal Hyperplasia (policy currently under review). http://www.screening.nhs. uk/congenitaladrenalhyperplasia (accessed 1 Aug 2013).
-
UK NSC Policy Database: Congenital Adrenal Hyperplasia
-
-
-
5
-
-
2642620230
-
Results of screening 1.9 million Texas newborns for 21-hydroxylase- deficient congenital adrenal hyperplasia
-
Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, et al . Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998;101:583 -90.
-
(1998)
Pediatrics
, vol.101
, pp. 583-590
-
-
Therrell Jr., B.L.1
Berenbaum, S.A.2
Manter-Kapanke, V.3
-
6
-
-
0029839693
-
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, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Pediatrics 1996;98:362-7.
-
(1996)
Pediatrics
, vol.98
, pp. 362-367
-
-
Balsamo, A.1
Cacciari, E.2
Piazzi, S.3
-
7
-
-
0032757372
-
Effect of newborn screening for congenital adrenal hyperplasia
-
Brosnan PG, Brosnan CA, Kemp SF, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med 1999;153:1272-8.
-
(1999)
Arch Pediatr Adolesc Med
, vol.153
, pp. 1272-1278
-
-
Brosnan, P.G.1
Brosnan, C.A.2
Kemp, S.F.3
-
8
-
-
0032039591
-
Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
-
Thil'en A, Nordenström A, Hagenfeldt L, et al. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998;101:E11.
-
(1998)
Pediatrics
, vol.101
-
-
Thil'en, A.1
Nordenström, A.2
Hagenfeldt, L.3
-
9
-
-
0035199542
-
Newborn screening for congenital adrenal hyperplasia in the Netherlands
-
Van der Kamp HJ, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001;108:1320-4.
-
(2001)
Pediatrics
, vol.108
, pp. 1320-1324
-
-
Van Der Kamp, H.J.1
Noordam, K.2
Elvers, B.3
-
10
-
-
52649165574
-
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, et al. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health 2008;44:554-9.
-
(2008)
J Paediatr Child Health
, vol.44
, pp. 554-559
-
-
Gleeson, H.K.1
Wiley, V.2
Wilcken, B.3
-
11
-
-
12544254677
-
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: Implications for neonatal screening
-
Nordenström A, Ahmed S, Jones J, et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005;63:22-8.
-
(2005)
Horm Res
, vol.63
, pp. 22-28
-
-
Nordenström, A.1
Ahmed, S.2
Jones, J.3
-
12
-
-
0025232467
-
Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis
-
Thilén A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand 1990;79:168-75.
-
(1990)
Acta Paediatr Scand
, vol.79
, pp. 168-175
-
-
Thilén, A.1
Larsson, A.2
-
13
-
-
0023263207
-
Should we screen for congenital adrenal hyperplasia? A review of 117 cases
-
Virdi NK, Rayner PH, Rudd BT, et al. Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child 1987;62:659-62.
-
(1987)
Arch Dis Child
, vol.62
, pp. 659-662
-
-
Virdi, N.K.1
Rayner, P.H.2
Rudd, B.T.3
-
14
-
-
0034917140
-
Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries
-
Middle European Workshop on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group
-
Kovács J, Votava F, Heinze G, et al. Middle European Workshop on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab 2001;86:2958-64.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 2958-2964
-
-
Kovács, J.1
Votava, F.2
Heinze, G.3
-
15
-
-
0036007258
-
Stability of 17α-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage
-
Török D, Mühl A, Votava F, et al. Stability of 17α-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage. Clin Chem 2002;48:370-2.
-
(2002)
Clin Chem
, vol.48
, pp. 370-372
-
-
Török, D.1
Mühl, A.2
Votava, F.3
-
16
-
-
42449147114
-
Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia
-
Liivak K, Tobi S, Schlecht H, et al. Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia. Horm Res 2008;69:227-32.
-
(2008)
Horm Res
, vol.69
, pp. 227-232
-
-
Liivak, K.1
Tobi, S.2
Schlecht, H.3
-
17
-
-
22744441059
-
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
-
Dolzan V, Sólyom J, Fekete G, et al. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005;153:99-106.
-
(2005)
Eur J Endocrinol
, vol.153
, pp. 99-106
-
-
Dolzan, V.1
Sólyom, J.2
Fekete, G.3
-
18
-
-
0028208951
-
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
-
Wedell A, Thilén A, Ritzén EM, et al. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-52.
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1145-1152
-
-
Wedell, A.1
Thilén, A.2
Ritzén, E.M.3
-
19
-
-
0028328926
-
Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency
-
Donaldson MD, Thomas PH, Love JG, et al. Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. Arch Dis Child 1994;70:214-8.
-
(1994)
Arch Dis Child
, vol.70
, pp. 214-218
-
-
Donaldson, M.D.1
Thomas, P.H.2
Love, J.G.3
-
20
-
-
0347589343
-
Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary
-
Török D, Eckhardt G, Sólyom J. Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary. Eur J Pediatr 2003;162:844-9.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 844-849
-
-
Török, D.1
Eckhardt, G.2
Sólyom, J.3
-
21
-
-
84856107011
-
Incidence and clinical features of congenital adrenal hyperplasia in Great Britain
-
Khalid JM, Oerton JM, Dezateux C, et al. Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child 2012;97:101-6.
-
(2012)
Arch Dis Child
, vol.97
, pp. 101-106
-
-
Khalid, J.M.1
Oerton, J.M.2
Dezateux, C.3
-
22
-
-
2442466016
-
Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia
-
Ismail AA, Cawood M, Ufodiama EB, et al. Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia. Ann Clin Biochem 2004;41:245-7.
-
(2004)
Ann Clin Biochem
, vol.41
, pp. 245-247
-
-
Ismail, A.A.1
Cawood, M.2
Ufodiama, E.B.3
-
23
-
-
70349914332
-
Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: The Utah experience
-
Schwarz E, Liu A, Randall H, et al. Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res 2009;66:230-5.
-
(2009)
Pediatr Res
, vol.66
, pp. 230-235
-
-
Schwarz, E.1
Liu, A.2
Randall, H.3
-
24
-
-
10744226079
-
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
-
Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004;50:621-5.
-
(2004)
Clin Chem
, vol.50
, pp. 621-625
-
-
Lacey, J.M.1
Minutti, C.Z.2
Magera, M.J.3
-
25
-
-
3442878589
-
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
-
Minutti CZ, Lacey JM, Magera MJ, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004;89:3687-93.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3687-3693
-
-
Minutti, C.Z.1
Lacey, J.M.2
Magera, M.J.3
-
26
-
-
34447128813
-
Newborn screening for congenital adrenal hyperplasia: Additional steroid profile using liquid chromatography-tandem mass spectrometry
-
Janzen N, Peter M, Sander S, et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab 2007;92:2581-9.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2581-2589
-
-
Janzen, N.1
Peter, M.2
Sander, S.3
-
27
-
-
0026640090
-
Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays
-
Wong T, Shackleton CH, Covey TR, et al. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clin Chem 1992;38:1830-7.
-
(1992)
Clin Chem
, vol.38
, pp. 1830-1837
-
-
Wong, T.1
Shackleton, C.H.2
Covey, T.R.3
-
28
-
-
67349124987
-
False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values
-
Fingerhut R. False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values. Steroids 2009;74:662-5.
-
(2009)
Steroids
, vol.74
, pp. 662-665
-
-
Fingerhut, R.1
-
29
-
-
0346732365
-
Screening for congenital adrenal hyperplasia: Adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value
-
Olgemöller B, Roscher AA, Liebl B, et al . Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 2003;88:5790-4.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 5790-5794
-
-
Olgemöller, B.1
Roscher, A.A.2
Liebl, B.3
-
30
-
-
68349146820
-
Transient hyper-17-hydroxyprogesteronemia: A clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
-
Cavarzere P, Samara-Boustani D, Flechtner I, et al. Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2009;161:285-92.
-
(2009)
Eur J Endocrinol
, vol.161
, pp. 285-292
-
-
Cavarzere, P.1
Samara-Boustani, D.2
Flechtner, I.3
-
31
-
-
19244384203
-
Neonatal screening for congenital adrenal hyperplasia: 17-Hydroxyprogesterone levels and CYP21 genotypes in preterm infants
-
Nordenström A, Wedell A, Hagenfeldt L, et al . Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics 2001;108:E68.
-
(2001)
Pediatrics
, vol.108
-
-
Nordenström, A.1
Wedell, A.2
Hagenfeldt, L.3
-
32
-
-
34247897102
-
How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?
-
Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res 2007;67:284-91.
-
(2007)
Horm Res
, vol.67
, pp. 284-291
-
-
Grosse, S.D.1
Van Vliet, G.2
-
33
-
-
0031714625
-
Mortality in patients with congenital adrenal hyperplasia: A cohort study
-
Swerdlow AJ, Higgins CD, Brook CG, et al. Mortality in patients with congenital adrenal hyperplasia: a cohort study. J Pediatr 1998;133:516-20.
-
(1998)
J Pediatr
, vol.133
, pp. 516-520
-
-
Swerdlow, A.J.1
Higgins, C.D.2
Brook, C.G.3
-
34
-
-
0018887151
-
Congenital adrenal hyperplasia-a clinical and genetic survey. Are we detecting male salt-losers?
-
Murtaza L, Sibert JR, Hughes I, et al. Congenital adrenal hyperplasia-a clinical and genetic survey. Are we detecting male salt-losers? Arch Dis Child 1980;55:622-5.
-
(1980)
Arch Dis Child
, vol.55
, pp. 622-625
-
-
Murtaza, L.1
Sibert, J.R.2
Hughes, I.3
-
35
-
-
0022966125
-
Congenital adrenal hyperplasia in Birmingham: A retrospective analysis (1958-1985)
-
Virdi NK, Green A. Congenital adrenal hyperplasia in Birmingham: a retrospective analysis (1958-1985). J Inherit Metab Dis 1986;9(Suppl 1):152-5.
-
(1986)
J Inherit Metab Dis
, vol.9
, Issue.SUPPL. 1
, pp. 152-155
-
-
Virdi, N.K.1
Green, A.2
-
36
-
-
70349757000
-
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006
-
Dumic K, Krnic N, Skrabic V, et al. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. Horm Res 2009;72:310-4.
-
(2009)
Horm Res
, vol.72
, pp. 310-314
-
-
Dumic, K.1
Krnic, N.2
Skrabic, V.3
-
37
-
-
84856100509
-
Clinical presentation of older children with congenital adrenal hyperplasia: An important outcome for newborn screening policy
-
Knowles R, Khalid JM, Oerton J, et al. Clinical presentation of older children with congenital adrenal hyperplasia: an important outcome for newborn screening policy. Arch Dis Child 2010;95:A6 -7.
-
(2010)
Arch Dis Child
, vol.95
-
-
Knowles, R.1
Khalid, J.M.2
Oerton, J.3
|