-
1
-
-
33846214395
-
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
-
Krone N, Dhir V, Ivison HE, Arlt W. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol (Oxf). 2007;66:162-72.
-
(2007)
Clin Endocrinol (Oxf)
, vol.66
, pp. 162-172
-
-
Krone, N.1
Dhir, V.2
Ivison, H.E.3
Arlt, W.4
-
2
-
-
20444462824
-
Congenital adrenal hyperplasia
-
Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005;365:2125-36.
-
(2005)
Lancet
, vol.365
, pp. 2125-2136
-
-
Merke, D.P.1
Bornstein, S.R.2
-
3
-
-
8844257307
-
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update. 2004;10(6):469-85.
-
(2004)
Hum Reprod Update
, vol.10
, Issue.6
, pp. 469-485
-
-
Forest, M.G.1
-
4
-
-
18944384700
-
21-Hydroxylase deficiency: An exemplary model of the contribution of molecular biology in the understanding and management of the disease
-
Forest MG, Tardy V, Nicolino M, David M, Morel Y. 21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. Ann Endocrinol (Paris). 2005;66(3):225-32.
-
(2005)
Ann Endocrinol (Paris)
, vol.66
, Issue.3
, pp. 225-232
-
-
Forest, M.G.1
Tardy, V.2
Nicolino, M.3
David, M.4
Morel, Y.5
-
5
-
-
77956588420
-
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline
-
Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95(9):4133-60.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, Issue.9
, pp. 4133-4160
-
-
Speiser, P.W.1
Azziz, R.2
Baskin, L.S.3
Ghizzoni, L.4
Hensle, T.W.5
Merke, D.P.6
-
6
-
-
0035742056
-
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Working Group on Neonatal Screening of the European Society for Pediatric Endocrinology. Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res. 2001;55:201-5.
-
(2001)
Horm Res
, vol.55
, pp. 201-205
-
-
-
7
-
-
0035743113
-
Evaluation of neonatal screening for congenital adrenal hyperplasia
-
Honour JW, Torresani T. Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res. 2001;55:206-11.
-
(2001)
Horm Res
, vol.55
, pp. 206-211
-
-
Honour, J.W.1
Torresani, T.2
-
8
-
-
12544254677
-
Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: Implications for neonatal screening
-
Nordenström A, Ahmed S, Jones J, Coleman M, Price DA, Clayton PE, 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
Coleman, M.4
Price, D.A.5
Clayton, P.E.6
-
9
-
-
70349332942
-
Neonatal screening for congenital adrenal hyperplasia
-
White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. 2009;5:490-8.
-
(2009)
Nat Rev Endocrinol
, vol.5
, pp. 490-498
-
-
White, P.C.1
-
10
-
-
21044438029
-
Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: A report three years into the program
-
Cavarzere P, Camilot M, Teofoli F, Tatò L. Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program. Horm Res. 2005;63(4):180-6.
-
(2005)
Horm Res
, vol.63
, Issue.4
, pp. 180-186
-
-
Cavarzere, P.1
Camilot, M.2
Teofoli, F.3
Tatò, L.4
-
11
-
-
34247897102
-
How many deaths can be prevented by newborn screening forcongenital adrenal hyperplasia?
-
Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening forcongenital adrenal hyperplasia? Horm Res. 2007;67(6):284-91.
-
(2007)
Horm Res
, vol.67
, Issue.6
, pp. 284-291
-
-
Grosse, S.D.1
Van Vliet, G.2
-
12
-
-
0017658750
-
Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia
-
Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003-8.
-
(1977)
J Clin Endocrinol Metab
, vol.45
, pp. 1003-1008
-
-
Pang, S.1
Hotchkiss, J.2
Drash, A.L.3
Levine, L.S.4
New, M.I.5
-
13
-
-
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
-
14
-
-
0026525093
-
Genetic basis of endocrine disease: Congenital adrenal hyperplasis due to 21-hydroxylase
-
White PC, New MI. Genetic basis of endocrine disease: congenital adrenal hyperplasis due to 21-hydroxylase. J Clin Endocrinol Metab. 1992;74:6-11.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 6-11
-
-
White, P.C.1
New, M.I.2
-
15
-
-
0032039591
-
Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
-
Thil’en A, Nordenström A, Hagenfeldt L, von Döbeln U, Guthenberg C, Larsson A. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics. 1998;101(4):E11.
-
(1998)
Pediatrics
, vol.101
, Issue.4
, pp. E11
-
-
Thil’en, A.1
Nordenström, A.2
Hagenfeldt, L.3
Von Döbeln, U.4
Guthenberg, C.5
Larsson, A.6
-
16
-
-
84908361423
-
-
Nascidos Vivos-Santa Catarina [Internet], Available at, Accessed on: Jul 15, 2012
-
Banco de Dados do Sistema Único de Saúde. Nascidos Vivos-Santa Catarina [Internet] 2012. Available at: http://tabnet.datasus.gov.br/cgi/deftohtm.exe?sinasc/cnv/nvSC.def. Accessed on: Jul 15, 2012.
-
(2012)
-
-
-
17
-
-
8344241829
-
-
[Internet] 2012. Accessed on: Fev 11, 2012. Available at
-
Instituto Brasileiro de Geografia e Estatística. Censo Demográfico 2010 [Internet] 2012. Accessed on: Fev 11, 2012. Available at: http://www.censo2010.ibge.gov.br.
-
(2010)
Censo Demográfico
-
-
-
18
-
-
34548481991
-
Newborn screening in Latin America at the beginning of the 21st century
-
Borrajo G. Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis. 2007;30(4):466-81.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.4
, pp. 466-481
-
-
Borrajo, G.1
-
19
-
-
84855466283
-
Situação atual da triagem neonatal para hipotireoidismo congênito: Críticas e perspectivas
-
Nascimento ML. Situação atual da triagem neonatal para hipotireoidismo congênito: críticas e perspectivas. Arq Bras Endocrinol Metab. 2011;55(8):528-33.
-
(2011)
Arq Bras Endocrinol Metab
, vol.55
, Issue.8
, pp. 528-533
-
-
Nascimento, M.L.1
-
20
-
-
46049104906
-
The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás
-
Silveira EL, dos Santos EP, Bachega TA, van der Linden Nader I, Gross JL, Elnecave RH. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred--an estimate based on a public neonatal screening program in the state of Goiás. J Pediatr Endocrinol Metab. 2008;21(5):455-60.
-
(2008)
J Pediatr Endocrinol Metab
, vol.21
, Issue.5
, pp. 455-460
-
-
Silveira, E.L.1
Dos Santos, E.P.2
Bachega, T.A.3
Van Der Linden Nader, I.4
Gross, J.L.5
Elnecave, R.H.6
-
21
-
-
84866065745
-
Triagem neonatal para hiperplasia adrenal congênita
-
Barra CB, Silva IN, Pezzuti IL, Januário JN. Triagem neonatal para hiperplasia adrenal congênita. Rev Assoc Med Bras. 2012;58(4):459-64.
-
(2012)
Rev Assoc Med Bras
, vol.58
, Issue.4
, pp. 459-464
-
-
Barra, C.B.1
Silva, I.N.2
Pezzuti, I.L.3
Januário, J.N.4
-
23
-
-
0020383911
-
A pilot newborn screening for congenital adrenal hyperplasia in Alaska
-
Pang S, Murphey W, Levine LS, Spence DA, Leon A, La Franchi S, et al. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab. 1982;55:413-20.
-
(1982)
J Clin Endocrinol Metab
, vol.55
, pp. 413-420
-
-
Pang, S.1
Murphey, W.2
Levine, L.S.3
Spence, D.A.4
Leon, A.5
La Franchi, S.6
-
24
-
-
10344226651
-
Neonatal screening for congenital adrenal hyperplasia
-
van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2004;151 Suppl 3:U71-5.
-
(2004)
Eur J Endocrinol
, vol.151
, pp. 71-75
-
-
Van Der Kamp, H.J.1
Wit, J.M.2
-
25
-
-
33745297628
-
Expanded newborn screening for biochemical disorders: The effect of a false-positive result
-
Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117:1915-21.
-
(2006)
Pediatrics
, vol.117
, pp. 1915-1921
-
-
Gurian, E.A.1
Kinnamon, D.D.2
Henry, J.J.3
Waisbren, S.E.4
-
26
-
-
79955511669
-
Neonatal screening for congenital adrenal hyperplasia: Transitory elevation of 17-hydroxyprogesterone
-
Fernández BH, Fernández ME, Íñiguez ED, Zubicaray BE, Martín MBR, Arnao MDR, et al. Neonatal screening for congenital adrenal hyperplasia: transitory elevation of 17-hydroxyprogesterone. J Clin Endocrinol Metab. 2011;24(3-4):155-62.
-
(2011)
J Clin Endocrinol Metab
, vol.24
, Issue.3-4
, pp. 155-162
-
-
Fernández, B.H.1
Fernández, M.E.2
Íñiguez, E.D.3
Zubicaray, B.E.4
Martín, M.B.R.5
Arnao, M.D.R.6
-
27
-
-
85011357747
-
Triagem neonatal para hiperplasia adrenal congênita: Considerações sobre a elevação transitória da 17-hidroxiprogesterona
-
Alves CAD, Balesteri V, Toralles MBP. Triagem neonatal para hiperplasia adrenal congênita: considerações sobre a elevação transitória da 17-hidroxiprogesterona. RBPS. 2006;19(4):203-8.
-
(2006)
RBPS
, vol.19
, Issue.4
, pp. 203-208
-
-
Alves, C.A.D.1
Balesteri, V.2
Toralles, B.P.3
-
28
-
-
84855460109
-
Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia
-
Hayashi G, Faure C, Brondi MF, Vallejos C, Soares D, Oliveira E, et al. Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia. Arq Bras Endocrinol Metab. 2011;55(8):632-7.
-
(2011)
Arq Bras Endocrinol Metab
, vol.55
, Issue.8
, pp. 632-637
-
-
Hayashi, G.1
Faure, C.2
Brondi, M.F.3
Vallejos, C.4
Soares, D.5
Oliveira, E.6
-
29
-
-
23044467470
-
Cutoff levels of 17-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight
-
Van der Kamp HJ, Oudshoorn CG, Elvers BH, van Baarle M, Otten BJ, Wit JM, et al. Cutoff levels of 17-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. J Clin Endocrinol Metab. 2005;90:3904-7.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3904-3907
-
-
Van Der Kamp, H.J.1
Oudshoorn, C.G.2
Elvers, B.H.3
Van Baarle, M.4
Otten, B.J.5
Wit, J.M.6
-
30
-
-
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, Cassio A, Bozza D, Pirazzoli P, 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):362-7.
-
(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
-
31
-
-
0032757372
-
Effect of newborn screening for congenital adrenal hyperplasia
-
Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, 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
Domek, D.B.4
Jelley, D.H.5
Blackett, P.R.6
-
32
-
-
2642620230
-
Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia
-
Therrell Jr BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, 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, B.L.1
Berenbaum, S.A.2
Manter-Kapanke, V.3
Simmank, J.4
Korman, K.5
Prentice, L.6
-
33
-
-
33751529747
-
Extensive clinical experience: nonclassical 21-hydroxylase deficiency
-
New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006;91:4205-14.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4205-4214
-
-
New, M.I.1
|