-
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(3):245-91.
-
(2000)
Endocr Rev
, vol.21
, Issue.3
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
2
-
-
70349332942
-
Neonatal screening for congenital adrenal hyperplasia
-
White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. 2009;5(9):490-8.
-
(2009)
Nat Rev Endocrinol
, vol.5
, Issue.9
, pp. 490-498
-
-
White, P.C.1
-
3
-
-
34548503622
-
Newborn screening in the Asia Pacific region
-
Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007;30(4):490-506.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.4
, pp. 490-506
-
-
Padilla, C.D.1
Therrell, B.L.2
-
4
-
-
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(4 Pt 1):583-90.
-
(1998)
Pediatrics
, vol.101
, Issue.4
, pp. 583-590
-
-
Therrell, B.L.1
Berenbaum, S.A.2
Manter-Kapanke, V.3
Simmank, J.4
Korman, K.5
Prentice, L.6
-
5
-
-
84902168531
-
Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study
-
Gidlof S, Wedell A, Guthenberg C, von Dobeln U, Nordenstrom A. Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study. JAMA Pediatr. 2014;168(6):567-74.
-
(2014)
JAMA Pediatr
, vol.168
, Issue.6
, pp. 567-574
-
-
Gidlof, S.1
Wedell, A.2
Guthenberg, C.3
von Dobeln, U.4
Nordenstrom, A.5
-
6
-
-
0036819011
-
Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study
-
Chu SY, Tsai WY, Chen LH, Wei ML, Chien YH, Hwu WL. Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study. J Formos Med Assoc. 2002;101(10):691-4.
-
(2002)
J Formos Med Assoc
, vol.101
, Issue.10
, pp. 691-694
-
-
Chu, S.Y.1
Tsai, W.Y.2
Chen, L.H.3
Wei, M.L.4
Chien, Y.H.5
Hwu, W.L.6
-
7
-
-
84863093455
-
Consolidating newborn screening efforts in the Asia Pacific region: Networking and shared education
-
Padilla CD, Therrell Jr BL, Working Group of the Asia Pacific Society for Human Genetics on Consolidating Newborn Screening Efforts in the Asia Pacific Region. Consolidating newborn screening efforts in the Asia Pacific region: Networking and shared education. J Community Genet. 2012;3(1):35-45.
-
(2012)
J Community Genet
, vol.3
, Issue.1
, pp. 35-45
-
-
Padilla, C.D.1
Therrell, B.L.2
-
8
-
-
78649333925
-
Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience
-
Kaur G, Srivastav J, Jain S, Chawla D, Chavan BS, Atwal R, et al. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian J Pediatr. 2010;77(9):969-73.
-
(2010)
Indian J Pediatr
, vol.77
, Issue.9
, pp. 969-973
-
-
Kaur, G.1
Srivastav, J.2
Jain, S.3
Chawla, D.4
Chavan, B.S.5
Atwal, R.6
-
9
-
-
79961010078
-
The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency
-
Nagasaki K, Asami T, Abe Y, Usuda T, Kikuchi T, Uchiyama M. The occurrence of neonatal acute respiratory disorders in 21-hydroxylase deficiency. Endocr J. 2011;58(7):603-6.
-
(2011)
Endocr J
, vol.58
, Issue.7
, pp. 603-606
-
-
Nagasaki, K.1
Asami, T.2
Abe, Y.3
Usuda, T.4
Kikuchi, T.5
Uchiyama, M.6
-
10
-
-
84899465674
-
Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo
-
Morikawa S, Nakamura A, Fujikura K, Fukushi M, Hotsubo T, Miyata J, et al. Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo. Clin Pediatr Endocrinol. 2014;23(2): 35-43.
-
(2014)
Clin Pediatr Endocrinol
, vol.23
, Issue.2
, pp. 35-43
-
-
Morikawa, S.1
Nakamura, A.2
Fujikura, K.3
Fukushi, M.4
Hotsubo, T.5
Miyata, J.6
-
11
-
-
84988955380
-
-
e-stat; Portal Site of Official Statistics of Japan
-
Vital, Health and Social Statistics Division, Statistics and Information Department, Minister's Secretariat, Ministry of Health, Labour and Welfare (2015): Summary tables of vital statistics: Japan, each prefecture and 21 major cities. e-stat; Portal Site of Official Statistics of Japan. [http://www.e-stat.go.jp/SG1/estat/CsvdlE.do?sinfid=000027231392]
-
(2015)
Summary tables of vital statistics: Japan, each prefecture and 21 major cities
-
-
-
12
-
-
84988974543
-
-
e-stat; Portal Site of Official Statistics of Japan
-
Vital, Health and Social Statistics Division, Statistics and Information Department, Minister's Secretariat, Ministry of Health, Labour and Welfare (2015): Live Births in Tokyo, 1983-2013. e-stat; Portal Site of Official Statistics of Japan. [http://www.e-stat.go.jp/SG1/chiiki/CommunityProfileTopDispatchAction.do?code=2]
-
(2015)
Live Births in Tokyo, 1983-2013
-
-
-
13
-
-
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
-
15
-
-
0031722006
-
Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan
-
Tajima T, Fujieda K, Nakae J, Mikami A, Cutler Jr GB. Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan. Endocr J. 1998;45(4):493-7.
-
(1998)
Endocr J
, vol.45
, Issue.4
, pp. 493-497
-
-
Tajima, T.1
Fujieda, K.2
Nakae, J.3
Mikami, A.4
Cutler, G.B.5
-
16
-
-
0030792064
-
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan
-
Tajima T, Fujieda K, Nakae J, Toyoura T, Shimozawa K, Kusuda S, et al. Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. J Clin Endocrinol Metab. 1997;82(7):2350-6.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, Issue.7
, pp. 2350-2356
-
-
Tajima, T.1
Fujieda, K.2
Nakae, J.3
Toyoura, T.4
Shimozawa, K.5
Kusuda, S.6
-
17
-
-
84926148541
-
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, et al. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr J. 2015;62(3):277-82.
-
(2015)
Endocr J
, vol.62
, Issue.3
, pp. 277-282
-
-
Kashimada, K.1
Ishii, T.2
Nagasaki, K.3
Ono, M.4
Tajima, T.5
Yokota, I.6
-
18
-
-
0028109580
-
Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan
-
Suwa S. Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan. Screening. 1994;3:141-51.
-
(1994)
Screening
, vol.3
, pp. 141-151
-
-
Suwa, S.1
-
19
-
-
0007954251
-
The clinical surveilance report of congenital adrenal hyperplasia-First chapter: Analysis about the prevalence
-
[published in Japanese language]
-
Suwa S, Igarashi Y, Kato K, Kusunoki T, Tanae A, Niimi K, et al. The clinical surveilance report of congenital adrenal hyperplasia-First chapter: Analysis about the prevalence. The Journal of the Japan Pediatric Society. 1981;85(2):204-10 [published in Japanese language].
-
(1981)
The Journal of the Japan Pediatric Society
, vol.85
, Issue.2
, pp. 204-210
-
-
Suwa, S.1
Igarashi, Y.2
Kato, K.3
Kusunoki, T.4
Tanae, A.5
Niimi, K.6
-
20
-
-
84988942434
-
-
e-stat; Portal Site of Official Statistics of Japan
-
Vital, Health and Social Statistics Division, Statistics and Information Department, Minister's Secretariat, Ministry of Health, Labour and Welfare (2015): Deaths by causes (the list of three-character categories), sex and age: Japan, 1995-2013. e-stat; Portal Site of Official Statistics of Japan. [http://www.e-stat.go.jp/SG1/estat/GL32020101.do]
-
(2015)
Deaths by causes (the list of three-character categories), sex and age: Japan, 1995-2013
-
-
-
21
-
-
22744443150
-
Mortality in Patients with Congenital 21-Hydroxylase Deficiency Diagnosed after the Introduction of a Newborn Screening Program in Japan
-
Ogawa E, Fujieda K, Tachibana K, Inomata H, Kinoshita E, Kusuda S, et al. Mortality in Patients with Congenital 21-Hydroxylase Deficiency Diagnosed after the Introduction of a Newborn Screening Program in Japan. Clin Pediatr Endocrinol. 2003;12(1):19-23.
-
(2003)
Clin Pediatr Endocrinol
, vol.12
, Issue.1
, pp. 19-23
-
-
Ogawa, E.1
Fujieda, K.2
Tachibana, K.3
Inomata, H.4
Kinoshita, E.5
Kusuda, S.6
-
22
-
-
84856735747
-
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, et al. Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003. Arch Pediatr Adolesc Med. 2012;166(2):113-20.
-
(2012)
Arch Pediatr Adolesc Med
, vol.166
, Issue.2
, pp. 113-120
-
-
Coulm, B.1
Coste, J.2
Tardy, V.3
Ecosse, E.4
Roussey, M.5
Morel, Y.6
-
23
-
-
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):4106-10.
-
(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
-
24
-
-
0035199542
-
Newborn screening for congenital adrenal hyperplasia in the Netherlands
-
Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics. 2001;108(6):1320-4.
-
(2001)
Pediatrics
, vol.108
, Issue.6
, pp. 1320-1324
-
-
Van der Kamp, H.J.1
Noordam, K.2
Elvers, B.3
Van Baarle, M.4
Otten, B.J.5
Verkerk, P.H.6
-
25
-
-
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
-
26
-
-
0030034377
-
Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants
-
Saedi S, Dean H, Dent W, Stockl E, Cronin C. Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants. Pediatrics. 1996;97(1):100-2.
-
(1996)
Pediatrics
, vol.97
, Issue.1
, pp. 100-102
-
-
Saedi, S.1
Dean, H.2
Dent, W.3
Stockl, E.4
Cronin, C.5
-
27
-
-
0030729272
-
Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
-
Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr. 1997; 130(1):128-33.
-
(1997)
J Pediatr
, vol.130
, Issue.1
, pp. 128-133
-
-
Allen, D.B.1
Hoffman, G.L.2
Fitzpatrick, P.3
Laessig, R.4
Maby, S.5
Slyper, A.6
-
28
-
-
19244384203
-
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants
-
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.
-
(2001)
Pediatrics
, vol.108
, Issue.4
, pp. E68
-
-
Nordenstrom, A.1
Wedell, A.2
Hagenfeldt, L.3
Marcus, C.4
Larsson, A.5
-
29
-
-
84868616867
-
Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia
-
Sarafoglou K, Banks K, Gaviglio A, Hietala A, McCann M, Thomas W. Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia. Pediatrics. 2012;130(5):e1261-8.
-
(2012)
Pediatrics
, vol.130
, Issue.5
, pp. e1261-e1268
-
-
Sarafoglou, K.1
Banks, K.2
Gaviglio, A.3
Hietala, A.4
McCann, M.5
Thomas, W.6
-
30
-
-
34447128813
-
Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry
-
Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007;92(7):2581-9.
-
(2007)
J Clin Endocrinol Metab
, 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
-
31
-
-
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, Tauscher AL, Casetta B, McCann M, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem. 2004;50(3):621-5.
-
(2004)
Clin Chem
, vol.50
, Issue.3
, pp. 621-625
-
-
Lacey, J.M.1
Minutti, C.Z.2
Magera, M.J.3
Tauscher, A.L.4
Casetta, B.5
McCann, M.6
-
32
-
-
62449126738
-
Nonclassic adrenal hyperplasia
-
Speiser PW. Nonclassic adrenal hyperplasia. Rev Endocr Metab Disord. 2009; 10(1):77-82.
-
(2009)
Rev Endocr Metab Disord
, vol.10
, Issue.1
, pp. 77-82
-
-
Speiser, P.W.1
-
33
-
-
0033799619
-
Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency
-
Weintrob N, Brautbar C, Pertzelan A, Josefsberg Z, Dickerman Z, Kauschansky A, et al. Genotype-phenotype associations in non-classical steroid 21-hydroxylase deficiency. Eur J Endocrinol. 2000;143(3):397-403.
-
(2000)
Eur J Endocrinol
, vol.143
, Issue.3
, pp. 397-403
-
-
Weintrob, N.1
Brautbar, C.2
Pertzelan, A.3
Josefsberg, Z.4
Dickerman, Z.5
Kauschansky, A.6
-
34
-
-
0036669594
-
Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency
-
Simard J, Moisan AM, Morel Y. Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency. Semin Reprod Med. 2002;20(3):255-76.
-
(2002)
Semin Reprod Med
, vol.20
, Issue.3
, pp. 255-276
-
-
Simard, J.1
Moisan, A.M.2
Morel, Y.3
|