-
1
-
-
0023903807
-
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Pang S, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-874
-
(1988)
Pediatrics
, vol.81
, pp. 866-874
-
-
Pang, S.1
Wallace, M.A.2
Hofman, L.3
-
2
-
-
0027317014
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
-
Pang S, Clark A. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening. 1993;2:105-139
-
(1993)
Screening
, vol.2
, pp. 105-139
-
-
Pang, S.1
Clark, A.2
-
3
-
-
2642642825
-
National screening status report
-
Therrell BL. National screening status report. Infant Screening. 1997;20:7
-
(1997)
Infant Screening
, vol.20
, pp. 7
-
-
Therrell, B.L.1
-
4
-
-
0022273224
-
Clinical and endocrinological aspects of 21-hydroxylase deficiency
-
New MI. Clinical and endocrinological aspects of 21-hydroxylase deficiency. Ann NY Acad Sci. 1985;458:1-27
-
(1985)
Ann NY Acad Sci
, vol.458
, pp. 1-27
-
-
New, M.I.1
-
5
-
-
0000078090
-
The adrenal hyperplasias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
-
New MI, White PC, Pang S, Dupont B, Speiser PW. The adrenal hyperplasias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York, NY: McGraw-Hill;1989;2: 1881-1917
-
(1989)
The Metabolic Basis of Inherited Disease. 6th Ed.
, vol.2
, pp. 1881-1917
-
-
New, M.I.1
White, P.C.2
Pang, S.3
Dupont, B.4
Speiser, P.W.5
-
6
-
-
0141606795
-
The adrenal cortex
-
Rudolph AM, Hoffman JIE, Rudolph CD, Sagan P, eds. Stamford, CT: Appleton and Lange
-
Miller WL. The adrenal cortex. In: Rudolph AM, Hoffman JIE, Rudolph CD, Sagan P, eds. Rudolph's Pediatrics. 20th ed. Stamford, CT: Appleton and Lange; 1996:1711-1742
-
(1996)
Rudolph's Pediatrics. 20th Ed.
, pp. 1711-1742
-
-
Miller, W.L.1
-
7
-
-
0025935967
-
Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Harris H, Hirshhorn K, eds. New York, NY: Plenum
-
Morel Y, Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Harris H, Hirshhorn K, eds. Advances in Human Genetics. New York, NY: Plenum; 1991;20:1-68
-
(1991)
Advances in Human Genetics
, vol.20
, pp. 1-68
-
-
Morel, Y.1
Miller, W.L.2
-
8
-
-
0028154269
-
Genetics, diagnosis, and management of 21-hydroxylase deficiency
-
Miller WL. Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1994;710:241-246
-
(1994)
J Clin Endocrinol Metab
, vol.710
, pp. 241-246
-
-
Miller, W.L.1
-
9
-
-
0022219639
-
High frequency of nonclassical steroid 21-hydroxylase deficiency
-
Speiser PW, Dupont B, Rubinstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37: 650-667
-
(1985)
Am J Hum Genet
, vol.37
, pp. 650-667
-
-
Speiser, P.W.1
Dupont, B.2
Rubinstein, P.3
-
11
-
-
0028208951
-
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
-
Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab. 1994;710:1145-1152
-
(1994)
J Clin Endocrinol Metab
, vol.710
, pp. 1145-1152
-
-
Wedell, A.1
Thilen, A.2
Ritzen, E.M.3
Stengler, B.4
Luthman, H.5
-
12
-
-
0026525093
-
Genetic basis of endocrine disease 2: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White PC, New MI. Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 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
-
13
-
-
0016124395
-
Selection of diseases and tests in pediatric screening
-
Frankenburg WK. Selection of diseases and tests in pediatric screening. Pediatrics. 1974;54:612-616
-
(1974)
Pediatrics
, vol.54
, pp. 612-616
-
-
Frankenburg, W.K.1
-
14
-
-
0017658750
-
Microfilter paper method for 17-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-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003-1008
-
(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
-
15
-
-
0004989820
-
Screening newborns for congenital adrenal hyperplasia
-
Therrell BL, ed. Washington, DC: American Public Health Association
-
Hofman LF, Pang S. Screening newborns for congenital adrenal hyperplasia. In: Therrell BL, ed. Laboratory Methods for Neonatal Screening. Washington, DC: American Public Health Association; 1993:155-610
-
(1993)
Laboratory Methods for Neonatal Screening
, pp. 155-610
-
-
Hofman, L.F.1
Pang, S.2
-
16
-
-
38249013300
-
Screening of half a million Swedish newborn infants for congenital adrenal hyperplasia
-
Larsson A, Thilen A, Hagenfeldt L, von Dobeln U, Guthenberg C. Screening of half a million Swedish newborn infants for congenital adrenal hyperplasia. Screening. 1992;1:159-166
-
(1992)
Screening
, vol.1
, pp. 159-166
-
-
Larsson, A.1
Thilen, A.2
Hagenfeldt, L.3
Von Dobeln, U.4
Guthenberg, C.5
-
17
-
-
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;3:141-151
-
(1994)
Screening
, vol.3
, pp. 141-151
-
-
Suwa, S.1
-
18
-
-
0022759607
-
Second testing for hypothyroidism
-
Letter
-
Levine GL, Therrell BL. Second testing for hypothyroidism. Pediatrics. 1986;86:375-376. Letter
-
(1986)
Pediatrics
, vol.86
, pp. 375-376
-
-
Levine, G.L.1
Therrell, B.L.2
-
20
-
-
0005093890
-
Screening for congenital adrenal hyperplasia - The need for uniform data collection
-
Therrell BL, Berenbaum SA. Screening for congenital adrenal hyperplasia - the need for uniform data collection. Infant Screening. 1992;15: 18-23
-
(1992)
Infant Screening
, vol.15
, pp. 18-23
-
-
Therrell, B.L.1
Berenbaum, S.A.2
-
21
-
-
78651037802
-
Der genitalbefund beim pseudohermaphroditismus femininus des kongenitalen adrenogenitalen syndroms
-
Prader A. Der genitalbefund beim pseudohermaphroditismus femininus des kongenitalen adrenogenitalen syndroms. Helv Paediatr Acta. 1954;3:231-248
-
(1954)
Helv Paediatr Acta
, vol.3
, pp. 231-248
-
-
Prader, A.1
-
22
-
-
0020556434
-
Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
-
New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab. 1983;57:320-326
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 320-326
-
-
New, M.I.1
Lorenzen, F.2
Lerner, A.J.3
-
23
-
-
0024215436
-
Growth and final height in classical and nonclassical 21-hydroxylase deficiency
-
New MI, Gertner JM, Speiser PW, del Balzo P. Growth and final height in classical and nonclassical 21-hydroxylase deficiency. Acta Paediatr Jpn. 1988;30:79-88
-
(1988)
Acta Paediatr Jpn
, vol.30
, pp. 79-88
-
-
New, M.I.1
Gertner, J.M.2
Speiser, P.W.3
Del Balzo, P.4
-
24
-
-
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;98:362-367
-
(1996)
Pediatrics
, vol.98
, pp. 362-367
-
-
Balsamo, A.1
Cacciari, E.2
Piazzi, S.3
-
25
-
-
0001258154
-
Congenital adrenal hyperplasia - unsolved questions in neonatal screening
-
Farriaux J-P, Dhondt J-L, eds. Amsterdam, The Netherlands: Elsevier
-
Larsson A, von Döbeln U, Guthenberg C, Hagenfeldt L, Thilen A. Congenital adrenal hyperplasia - unsolved questions in neonatal screening. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. Amsterdam, The Netherlands: Elsevier; 1994:155-160
-
(1994)
New Horizons in Neonatal Screening
, pp. 155-160
-
-
Larsson, A.1
Von Döbeln, U.2
Guthenberg, C.3
Hagenfeldt, L.4
Thilen, A.5
-
26
-
-
0002046165
-
Systematic neonatal screening for congenital adrenal hyperplasia: Report of a pilot study in two centers in France
-
Therrell BL, ed. Amsterdam, The Netherlands: Elsevier
-
Dorche C, Dhondt JL, Bozon D, Rolland MO, David M, Farriaux JP. Systematic neonatal screening for congenital adrenal hyperplasia: report of a pilot study in two centers in France. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam, The Netherlands: Elsevier; 1987:289-292
-
(1987)
Advances in Neonatal Screening
, pp. 289-292
-
-
Dorche, C.1
Dhondt, J.L.2
Bozon, D.3
Rolland, M.O.4
David, M.5
Farriaux, J.P.6
-
27
-
-
2642683103
-
Screening infants for CAH: The Washington experience
-
Therrell BL, ed. Amsterdam, The Netherlands: Elsevier
-
Hofman LF. Screening infants for CAH: the Washington experience. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam, The Netherlands: Elsevier; 1987:287-288
-
(1987)
Advances in Neonatal Screening
, pp. 287-288
-
-
Hofman, L.F.1
-
28
-
-
0026641101
-
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Speiser PW, Dupont J, Zhu D, et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest. 1992;90:584-595
-
(1992)
J Clin Invest
, vol.90
, pp. 584-595
-
-
Speiser, P.W.1
Dupont, J.2
Zhu, D.3
-
29
-
-
0027159735
-
Steroid 21-hydroxylase deficiency: Two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
-
Wedell A, Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet. 1993;2:499-504
-
(1993)
Hum Mol Genet
, vol.2
, pp. 499-504
-
-
Wedell, A.1
Luthman, H.2
-
30
-
-
0029127391
-
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency
-
Thilen A, Woods KA, Perry LA, Savage MO, Wedell A, Ritzen EM. Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency. Acta Paediatr. 1995;84:894-898
-
(1995)
Acta Paediatr
, vol.84
, pp. 894-898
-
-
Thilen, A.1
Woods, K.A.2
Perry, L.A.3
Savage, M.O.4
Wedell, A.5
Ritzen, E.M.6
-
31
-
-
4243223297
-
Growth of patients with 21-hydroxylase deficiency: An analysis of the factors influencing adult height
-
Jääskelainen J, Voutilainen R. Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatr Res. 1997;41:30-33
-
(1997)
Pediatr Res
, vol.41
, pp. 30-33
-
-
Jääskelainen, J.1
Voutilainen, R.2
-
32
-
-
0029795514
-
The use of adrenalectomy as a treatment for congenital adrenal hyperplasia
-
Van Wyk JJ, Gunther DF, Ritzen EM, et al. The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1996;81:3180-3189
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3180-3189
-
-
Van Wyk, J.J.1
Gunther, D.F.2
Ritzen, E.M.3
-
33
-
-
0028816285
-
Newborn screening for congenital adrenal hyperplasia in New Zealand
-
Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr. 1995;126:120-121
-
(1995)
J Pediatr
, vol.126
, pp. 120-121
-
-
Cutfield, W.S.1
Webster, D.2
-
34
-
-
0009467746
-
French association's experience with screening for congenital adrenal hyperplasia
-
Farriaux J-P, Dhondt J-L, eds. Amsterdam, The Netherlands: Elsevier
-
Nivelon JL, Toublanc JE. French association's experience with screening for congenital adrenal hyperplasia. In: Farriaux J-P, Dhondt J-L, eds. New Horizons in Neonatal Screening. Amsterdam, The Netherlands: Elsevier; 1994:173-176
-
(1994)
New Horizons in Neonatal Screening
, pp. 173-176
-
-
Nivelon, J.L.1
Toublanc, J.E.2
-
35
-
-
0024214381
-
Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots
-
Larsson A, Hagenfeldt L, von Döbeln U, Curstedt T, Gustafsson J, Svensson E. Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots. Horm Res. 1988;30:235-240
-
(1988)
Horm Res
, vol.30
, pp. 235-240
-
-
Larsson, A.1
Hagenfeldt, L.2
Von Döbeln, U.3
Curstedt, T.4
Gustafsson, J.5
Svensson, E.6
-
36
-
-
0028068309
-
Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17-α-hydroxyprogesterone to gestational age
-
Torresani T, Grüters A, Scherz R, Burckhardt JJ, Harras A, Zachman M. Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17-α-hydroxyprogesterone to gestational age. Screening. 1994;3:77-84
-
(1994)
Screening
, vol.3
, pp. 77-84
-
-
Torresani, T.1
Grüters, A.2
Scherz, R.3
Burckhardt, J.J.4
Harras, A.5
Zachman, M.6
-
37
-
-
0004995072
-
Five years' experience of newborn screening for congenital adrenal hyperplasia in Sapporo
-
Therrell BL, ed. Amsterdam, The Netherlands: Elsevier
-
Fujieda K, Matsuura N, Takasugi N, Fukushi M, Arai O, Mizushima Y. Five years' experience of newborn screening for congenital adrenal hyperplasia in Sapporo. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam, The Netherlands: Elsevier; 1987:281-286
-
(1987)
Advances in Neonatal Screening
, pp. 281-286
-
-
Fujieda, K.1
Matsuura, N.2
Takasugi, N.3
Fukushi, M.4
Arai, O.5
Mizushima, Y.6
-
38
-
-
0025372708
-
4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
4-steroids measured by HPLC-UV spectrometry in neonatal patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res. 1990;33:27-34
-
(1990)
Horm Res
, vol.33
, pp. 27-34
-
-
Saisho, S.1
Shimozawa, K.2
Yata, J.3
|