-
1
-
-
0000851929
-
Congenital adrenal hyperplasia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Donohoue PA, Parker K, Migeon CJ. Congenital adrenal hyperplasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995;2:2929-2966.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, vol.2
, pp. 2929-2966
-
-
Donohoue, P.A.1
Parker, K.2
Migeon, C.J.3
-
2
-
-
0023943706
-
Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: Molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency
-
Kagimoto M, Winter JSD, Kagimoto K, Simpson ER, Waterman MR. Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency. Mol Endocrinol 1988;2:564-570.
-
(1988)
Mol Endocrinol
, vol.2
, pp. 564-570
-
-
Kagimoto, M.1
Winter, J.S.D.2
Kagimoto, K.3
Simpson, E.R.4
Waterman, M.R.5
-
3
-
-
0026081588
-
17α-hydroxylase/ 17,20-lyase deficiency: From clinical investigation to molecular definition
-
Yanase T, Simpson ER, Waterman MR. 17α-hydroxylase/ 17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991;12:91-108.
-
(1991)
Endocr Rev
, vol.12
, pp. 91-108
-
-
Yanase, T.1
Simpson, E.R.2
Waterman, M.R.3
-
4
-
-
0029028807
-
17α-hydroxylase/17,20-lyase defects
-
Yanase T. 17α-hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 1995;53:153-157.
-
(1995)
J Steroid Biochem Mol Biol
, vol.53
, pp. 153-157
-
-
Yanase, T.1
-
5
-
-
0017178816
-
Hypokalemic crisis simulating intestinal obstruction in a 4-year-old girl
-
Preeyasombat C, Pitchayayothin N, Viravekin A. Hypokalemic crisis simulating intestinal obstruction in a 4-year-old girl. Am J Dis Child 1976;130:1143-1145.
-
(1976)
Am J Dis Child
, vol.130
, pp. 1143-1145
-
-
Preeyasombat, C.1
Pitchayayothin, N.2
Viravekin, A.3
-
6
-
-
0020082309
-
Hypokalemic myopathy associated with 17α-hydroxylase deficiency: A case report
-
Yazaki K, Kuribayashi T, Yamamura Y, Kurihara T, Araki S. Hypokalemic myopathy associated with 17α-hydroxylase deficiency: a case report. Neurology 1982;32:94-97.
-
(1982)
Neurology
, vol.32
, pp. 94-97
-
-
Yazaki, K.1
Kuribayashi, T.2
Yamamura, Y.3
Kurihara, T.4
Araki, S.5
-
8
-
-
0024462632
-
17α results in partial combined 17α-hydroxylase/17,20-lyase deficiency
-
17α results in partial combined 17α-hydroxylase/17,20-lyase deficiency. J Biol Chem 1989;264:18076-18082.
-
(1989)
J Biol Chem
, vol.264
, pp. 18076-18082
-
-
Yanase, T.1
Kagimoto, M.2
Suzuki, S.3
Hashiba, K.4
Simpson, E.R.5
Waterman, M.R.6
-
9
-
-
0026756522
-
Molecular basis of apparent isolated 17,20-lyase deficiency: Compound heterozygous mutations in the C-terminal region (Arg(496)→Cys, Gln(461)→Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency
-
Yanase T, Waterman MR, Zachmann M, Winter JSD, Simpson ER, Kagimoto M. Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)→Cys, Gln(461)→Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency. Biochim Biophys Acta 1992;1139:275-279.
-
(1992)
Biochim Biophys Acta
, vol.1139
, pp. 275-279
-
-
Yanase, T.1
Waterman, M.R.2
Zachmann, M.3
Winter, J.S.D.4
Simpson, E.R.5
Kagimoto, M.6
-
10
-
-
0031156875
-
A5′-splice site mutation in the cytochrome P450 steroid 17α-hydroxylase gene in 17α-hydroxylase deficiency
-
Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S. A5′-splice site mutation in the cytochrome P450 steroid 17α-hydroxylase gene in 17α-hydroxylase deficiency. J Clin Endocrinol Metab 1997;82:1934-1938.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1934-1938
-
-
Yamaguchi, H.1
Nakazato, M.2
Miyazato, M.3
Kangawa, K.4
Matsukura, S.5
|