-
1
-
-
0038310289
-
Congenital adrenal hyperplasia and related conditions
-
Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. New York: McGraw-Hill
-
New MI, Dupont B, Grumbach K, Levine LS. Congenital adrenal hyperplasia and related conditions. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS, editors. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill, 1983: 973-1000
-
(1983)
The Metabolic Basis of Inherited Disease. 5th Ed.
, pp. 973-1000
-
-
New, M.I.1
Dupont, B.2
Grumbach, K.3
Levine, L.S.4
-
2
-
-
0023226909
-
Congenital adrenal hyperplasia. Second of two parts
-
White PC, New MI, Dupont B. Congenital adrenal hyperplasia. Second of two parts. N Engl J Med 1987; 316: 1580-6
-
(1987)
N Engl J Med
, vol.316
, pp. 1580-1586
-
-
White, P.C.1
New, M.I.2
Dupont, B.3
-
3
-
-
0014578305
-
An unusually high incidence of salt-loosing congenital adrenal hyperplasia in the Alaskan Eskimo
-
Hirschfeld AJ, Fleisman JK. An unusually high incidence of salt-loosing congenital adrenal hyperplasia in the Alaskan Eskimo. J Pediatr 1969; 75: 492
-
(1969)
J Pediatr
, vol.75
, pp. 492
-
-
Hirschfeld, A.J.1
Fleisman, J.K.2
-
4
-
-
0020383911
-
A pilot newborn screening for congenital adrenal hyperplasia in Alaska
-
Pang S, Murphey W, Levine LS, Spence DA, Leon A, LaFranchi 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
LaFranchi, S.6
-
5
-
-
0026591712
-
High frequency of congenital adrenal hyperplasia (classic 11-hydoxylase deficiency) among Jews from Morocco
-
Rösler A, Leiberman E, Cohen T. High frequency of congenital adrenal hyperplasia (classic 11-hydoxylase deficiency) among Jews from Morocco. Am J Med Genet 1992; 42: 827-34
-
(1992)
Am J Med Genet
, vol.42
, pp. 827-834
-
-
Rösler, A.1
Leiberman, E.2
Cohen, T.3
-
6
-
-
0029066491
-
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency in Saudi Arabia: Clinical and biochemical characteristics
-
Al-Jurayyan N. Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency in Saudi Arabia: clinical and biochemical characteristics. Acta Pædiatr 1995; 84: 651-4
-
(1995)
Acta Pædiatr
, vol.84
, pp. 651-654
-
-
Al-Jurayyan, N.1
-
10
-
-
0023263207
-
Should we screen for congenital adrenal hyperplasia. A review of 117 cases
-
Virdi NK, Rayner PHW, Rudd BT, Green A. Should we screen for congenital adrenal hyperplasia. A review of 117 cases. Arch Dis Child 1987; 67: 659-62
-
(1987)
Arch Dis Child
, vol.67
, pp. 659-662
-
-
Virdi, N.K.1
Rayner, P.H.W.2
Rudd, B.T.3
Green, A.4
-
11
-
-
0023227541
-
Congenital adrenal hyperplasia. First of two parts
-
White PC, New MI, Dupont B. Congenital adrenal hyperplasia. First of two parts. N Engl J Med 1987; 316: 1519-24
-
(1987)
N Engl J Med
, vol.316
, pp. 1519-1524
-
-
White, P.C.1
New, M.I.2
Dupont, B.3
-
12
-
-
0023258576
-
Molecular and clinical advances in congenital adrenal hyperplasia
-
Miller WL, Levine SL. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 1987; 111: 1-17
-
(1987)
J Pediatr
, vol.111
, pp. 1-17
-
-
Miller, W.L.1
Levine, S.L.2
-
13
-
-
0023903807
-
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon ICT, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866-74
-
(1988)
Pediatrics
, vol.81
, pp. 866-874
-
-
Pang, S.1
Wallace, M.A.2
Hofman, L.3
Thuline, H.C.4
Dorche, C.5
Lyon, I.C.T.6
-
14
-
-
0022964806
-
Complete masculinization of the external genitalia in a genetic female with non-salt-loosing 21-hydroxylase deficiency
-
Wyatt DT, Chasalow FI, Granoff AB, Blethan SL. Complete masculinization of the external genitalia in a genetic female with non-salt-loosing 21-hydroxylase deficiency. J Pediatr Endocrinol 1987; 2: 35-8
-
(1987)
J Pediatr Endocrinol
, vol.2
, pp. 35-38
-
-
Wyatt, D.T.1
Chasalow, F.I.2
Granoff, A.B.3
Blethan, S.L.4
-
15
-
-
0024837122
-
Occurence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia
-
Chan-Cua S, Freidenberg G, Lee Jones K. Occurence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia. Am J Med Genet 1989; 34: 406-12
-
(1989)
Am J Med Genet
, vol.34
, pp. 406-412
-
-
Chan-Cua, S.1
Freidenberg, G.2
Lee Jones, K.3
-
16
-
-
0027944979
-
Consanguineous marriage in Turkey and its impact on fertility and mortality
-
Tunçbilek E, Koç I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Gent 1994; 58: 321-9
-
(1994)
Ann Hum Gent
, vol.58
, pp. 321-329
-
-
Tunçbilek, E.1
Koç, I.2
-
17
-
-
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: 1003-8
-
(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
-
18
-
-
0025253510
-
Prevalence of congenital adrenal hyperplasia in Kuwait
-
Lubani MM, Issa ARA, Bushnaq R, Al-Saleh QA, Dudin KI, Reavey PC, et al. Prevalence of congenital adrenal hyperplasia in Kuwait. Eur J Pediatr 1990; 149: 391-2
-
(1990)
Eur J Pediatr
, vol.149
, pp. 391-392
-
-
Lubani, M.M.1
Issa, A.R.A.2
Bushnaq, R.3
Al-Saleh, Q.A.4
Dudin, K.I.5
Reavey, P.C.6
-
19
-
-
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
-
20
-
-
0018818641
-
The incidence of congenital adrenal hyperplasia in Switzerland- a survey of patients born in 1960-1974
-
Werder EA, Siebenmann RE, Knorr-Murset G, Zimmermann A, Sizonenko PC, Theintz P, et al. The incidence of congenital adrenal hyperplasia in Switzerland- a survey of patients born in 1960-1974. Helv Paediatr Acta 1980; 35: 5-11
-
(1980)
Helv Paediatr Acta
, vol.35
, pp. 5-11
-
-
Werder, E.A.1
Siebenmann, R.E.2
Knorr-Murset, G.3
Zimmermann, A.4
Sizonenko, P.C.5
Theintz, P.6
-
21
-
-
0020698346
-
Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, a study of 25 patients
-
Zachmann M, Tassinari D, Prader A. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency, a study of 25 patients. J Clin Endocrinol Metab 1983; 56: 222-9
-
(1983)
J Clin Endocrinol Metab
, vol.56
, pp. 222-229
-
-
Zachmann, M.1
Tassinari, D.2
Prader, A.3
-
22
-
-
0025847381
-
A mutation in CYP 11B1 (Arg 448→His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin
-
White PC, Dupont J New MI, Lieberman E, Hochberg Z, Rösler A. A mutation in CYP 11B1 (Arg 448→His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest 1991; 87: 1664-7
-
(1991)
J Clin Invest
, vol.87
, pp. 1664-1667
-
-
White, P.C.1
Dupont, J.2
New, M.I.3
Lieberman, E.4
Hochberg, Z.5
Rösler, A.6
|