-
1
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
DOI 10.1210/er.21.3.245
-
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000;21(3):245-291. (Pubitemid 32275589)
-
(2000)
Endocrine Reviews
, vol.21
, Issue.3
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
20444462824
-
Congenital adrenal hyperplasia
-
DOI 10.1016/S0140-6736(05)66736-0, PII S0140673605667360
-
Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365(9477):2125-2136. (Pubitemid 40826971)
-
(2005)
Lancet
, vol.365
, Issue.9477
, pp. 2125-2136
-
-
Merke, D.P.1
Bornstein, S.R.2
-
3
-
-
77956588420
-
Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline
-
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(9):4133-4160.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.9
, pp. 4133-4160
-
-
Speiser, P.W.1
Azziz, R.2
Baskin, L.S.3
-
4
-
-
17844368347
-
Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3β-hydroxysteroid dehydrogenase deficiency
-
DOI 10.1210/jc.2004-1374
-
Johannsen TH, Mallet D, Dige-Petersen H, et al. Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2005;90(4):2076-2080. (Pubitemid 40586242)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.4
, pp. 2076-2080
-
-
Johannsen, T.H.1
Mallet, D.2
Dige-Petersen, H.3
Muller, J.4
Main, K.M.5
Morel, Y.6
Forest, M.G.7
-
5
-
-
0023903807
-
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81(6):866-874.
-
(1988)
Pediatrics
, vol.81
, Issue.6
, pp. 866-874
-
-
Pang, S.Y.1
Wallace, M.A.2
Hofman, L.3
-
6
-
-
0014352859
-
The evaluation of the worth of early disease detection
-
Wilson JM. The evaluation of the worth of early disease detection. J R Coll Gen Pract. 1968;16(suppl 2):48-57.
-
(1968)
J R Coll Gen Pract
, vol.16
, Issue.SUPPL. 2
, pp. 48-57
-
-
Wilson, J.M.1
-
7
-
-
34247897102
-
How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?
-
DOI 10.1159/000098400
-
Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res. 2007;67(6):284-291. (Pubitemid 46701493)
-
(2007)
Hormone Research
, vol.67
, Issue.6
, pp. 284-291
-
-
Grosse, S.D.1
Van Vliet, G.2
-
9
-
-
34548488231
-
Neonatal screening in Europe; the situation in 2004
-
DOI 10.1007/s10545-007-0644-5
-
Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007;30(4):430-438. (Pubitemid 47377038)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.4
, pp. 430-438
-
-
Loeber, J.G.1
-
10
-
-
34447128813
-
Newborn screening for congenital adrenal hyperplasia: Additional steroid profile using liquid chromatography-tandem mass spectrometry
-
DOI 10.1210/jc.2006-2890
-
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(7):2581-2589. (Pubitemid 47037361)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.7
, pp. 2581-2589
-
-
Janzen, N.1
Peter, M.2
Sander, S.3
Steuerwald, U.4
Terhardt, M.5
Holtkamp, U.6
Sander, J.7
-
11
-
-
0033077999
-
Le depistage neonatal de l'hyperplasie congenitale des surrenales par deficit en 21-hydroxylase: Experience lilloise 1980-1996
-
DOI 10.1016/S0929-693X(99)80202-4
-
Cartigny-Maciejewski M, Guilley N, Vanderbecken S, et al. Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996 [in French]. Arch Pediatr. 1999;6(2):151-158. (Pubitemid 29535508)
-
(1999)
Archives de Pediatrie
, vol.6
, Issue.2
, pp. 151-158
-
-
Cartigny-Maciejewski, M.1
Guilley, N.2
Vanderbecken, S.3
Gonde, S.4
Stuckens, C.5
Ponte, C.6
Weill, J.7
Farriaux, J.P.8
Paux, E.9
-
12
-
-
0034047515
-
The wonderful history of neonatal screening
-
Dhondt JL, Farriaux JP. The wonderful history of neonatal screening. Ann Biol Clin (Paris). 2000;58(3):267-276.
-
(2000)
Ann Biol Clin (Paris)
, vol.58
, Issue.3
, pp. 267-276
-
-
Dhondt, J.L.1
Farriaux, J.P.2
-
13
-
-
0025935967
-
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Harris H, Hirschhorn K, eds. 20th ed. New York, NY: Plenum Press
-
Morel Y, Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Harris H, Hirschhorn K, eds. Advances in Human Genetics. 20th ed. New York, NY: Plenum Press; 1991:1-68.
-
(1991)
Advances in Human Genetics
, pp. 1-68
-
-
Morel, Y.1
Miller, W.L.2
-
14
-
-
77749246314
-
Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier
-
Tardy V, Menassa R, Sulmont V, et al. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. J Clin Endocrinol Metab. 2010;95(3):1288-1300.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.3
, pp. 1288-1300
-
-
Tardy, V.1
Menassa, R.2
Sulmont, V.3
-
15
-
-
34249894510
-
Reference chart for relative weight change to detect hypernatraemic dehydration
-
DOI 10.1136/adc.2006.104331
-
van Dommelen P, van Wouwe JP, Breuning-Boers JM, van Buuren S, Verkerk PH. Reference chart for relative weight change to detect hypernatraemic dehydration. Arch Dis Child. 2007;92(6):490-494. (Pubitemid 46867263)
-
(2007)
Archives of Disease in Childhood
, vol.92
, Issue.6
, pp. 490-494
-
-
Van Dommelen, P.1
Van Wouwe, J.P.2
Breuning-Boers, J.M.3
Van Buuren, S.4
Verkerk, P.H.5
-
16
-
-
33745028657
-
La santé périnatale en France métropolitaine de 1995 a 2003: Résultats des enquêtes nationales périnatales
-
Blondel B, Supernant K, Du Mazaubrun C, Bréart G; pour la Coordination nationale des Enquêtes Nationales Périnatales. Trends in perinatal health in metropolitan France between 1995 and 2003: results from the National Perinatal Surveys [in French]. J Gynecol Obstet Biol Reprod (Paris). 2006;35(4):373-387. (Pubitemid 43873121)
-
(2006)
Journal de Gynecologie Obstetrique et Biologie de la Reproduction
, vol.35
, Issue.4
, pp. 373-387
-
-
Blondel, B.1
Supernant, K.2
Du, M.C.3
Breart, G.4
-
17
-
-
2642620230
-
Results of screening 1.9 million Texas newborns for 21-hydroxylase- deficient congenital adrenal hyperplasia
-
DOI 10.1542/peds.101.4.583
-
Therrell BLJ, 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(4, pt 1):583-590. (Pubitemid 28180138)
-
(1998)
Pediatrics
, vol.101
, Issue.4 I
, pp. 583-590
-
-
Therrell Jr., B.L.1
Berenbaum, S.A.2
Manter-Kapanke, V.3
Simmank, J.4
Korman, K.5
Prentice, L.6
Gonzalez, J.7
Gunn, S.8
-
18
-
-
0036738336
-
High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland
-
Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. J Clin Endocrinol Metab. 2002;87(9):4106-4110.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, Issue.9
, pp. 4106-4110
-
-
Steigert, M.1
Schoenle, E.J.2
Biason-Lauber, A.3
Torresani, T.4
-
19
-
-
0035199542
-
Newborn screening for congenital adrenal hyperplasia in the Netherlands
-
DOI 10.1542/peds.108.6.1320
-
Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Newborn screening for congenital adrenal hyperplasia in theNetherlands. Pediatrics. 2001;108(6):1320-1324. (Pubitemid 33121474)
-
(2001)
Pediatrics
, vol.108
, Issue.6
, pp. 1320-1324
-
-
Van Der, K.H.J.1
Noordam, K.2
Elvers, B.3
Van Baarle, M.4
Otten, B.J.5
Verkerk, P.H.6
-
20
-
-
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(3, pt 1):362-367. (Pubitemid 26295835)
-
(1996)
Pediatrics
, vol.98
, Issue.3
, pp. 362-367
-
-
Balsamo, A.1
Cacciari, E.2
Piazzi, S.3
Cassio, A.4
Bozza, D.5
Pirazzoli, P.6
Zappulla, F.7
-
21
-
-
19244384203
-
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants
-
doi:10.1542/peds.108.4.e68
-
Nordenstrom A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001;108(4):e68. doi:10.1542/peds.108.4.e68.
-
(2001)
Pediatrics
, vol.108
, Issue.4
-
-
Nordenstrom, A.1
Wedell, A.2
Hagenfeldt, L.3
Marcus, C.4
Larsson, A.5
-
22
-
-
0026640090
-
Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays
-
Wong T, Shackleton CH, Covey TR, Ellis G. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clin Chem. 1992;38(9):1830-1837.
-
(1992)
Clin Chem
, vol.38
, Issue.9
, pp. 1830-1837
-
-
Wong, T.1
Shackleton, C.H.2
Covey, T.R.3
Ellis, G.4
-
23
-
-
0029001479
-
Reference ranges for serum cortisol and 17-hydroxyprogesterone levels in preterm infants
-
al Saedi S, Dean H, Dent W, Cronin C. Reference ranges for serum cortisol and 17-hydroxyprogesterone levels in preterm infants. J Pediatr. 1995;126(6):985-987.
-
(1995)
J Pediatr
, vol.126
, Issue.6
, pp. 985-987
-
-
Al Saedi, S.1
Dean, H.2
Dent, W.3
Cronin, C.4
-
24
-
-
3442878589
-
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
-
DOI 10.1210/jc.2003-032235
-
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(8):3687-3693. (Pubitemid 39071456)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.8
, pp. 3687-3693
-
-
Minutti, C.Z.1
Lacey, J.M.2
Magera, M.J.3
Si, H.H.4
McCann, M.5
Schulze, A.6
Cheillan, D.7
Dorche, C.8
Chace, D.H.9
Lymp, J.F.10
Zimmerman, D.11
Rinaldo, P.12
Matern, D.13
-
25
-
-
0034917140
-
Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five Middle European countries
-
DOI 10.1210/jc.86.7.2958
-
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(7):2958-2964. (Pubitemid 32673448)
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, Issue.7
, pp. 2958-2964
-
-
Kovacs, J.1
Votava, F.2
Heinze, G.3
Solyom, J.4
Lebl, J.5
Pribilincova, Z.6
Frisch, H.7
Battelino, T.8
Waldhauser, F.9
-
26
-
-
58949100737
-
The cost effectiveness of screening newborns for congenital adrenal hyperplasia
-
Yoo BK, Grosse SD. The cost effectiveness of screening newborns for congenital adrenal hyperplasia. Public Health Genomics. 2009;12(2):67-72.
-
(2009)
Public Health Genomics
, vol.12
, Issue.2
, pp. 67-72
-
-
Yoo, B.K.1
Grosse, S.D.2
|