-
1
-
-
70449934276
-
Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia
-
Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2009;38:699-718.
-
(2009)
Endocrinol Metab Clin North Am
, vol.38
, pp. 699-718
-
-
Nimkarn, S.1
Lin-Su, K.2
New, M.I.3
-
2
-
-
4444379764
-
P450 oxidoreductase deficiency: A new disorder of steroidogenesis with multiple clinical manifestations
-
DOI 10.1016/j.tem.2004.07.005, PII S1043276004001535
-
Miller WL. P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations. Trends Endocrinol Metab 2004;15:311-5. (Pubitemid 39180005)
-
(2004)
Trends in Endocrinology and Metabolism
, vol.15
, Issue.7
, pp. 311-315
-
-
Miller, W.L.1
-
3
-
-
33646691530
-
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis
-
DOI 10.1203/01.pdr.0000195825.31504.28, PII 0000645020060200000022
-
Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res 2006;59:276-80. (Pubitemid 43841002)
-
(2006)
Pediatric Research
, vol.59
, Issue.2
, pp. 276-280
-
-
Fukami, M.1
Hasegawa, T.2
Horikawa, R.3
Ohashi, T.4
Nishimura, G.5
Homma, K.6
Ogata, T.7
-
4
-
-
0041487561
-
The adrenal cortex
-
Larsen PR, Kronenberg HM, Melrned S, Polonsky KS (eds). 10th ed. Philadelphia: Saunders
-
Stewart PM. The adrenal cortex. In: Larsen PR, Kronenberg HM, Melrned S, Polonsky KS (eds). Williams textbook of endocrinology, 10th ed. Philadelphia: Saunders; 2002. p 491-551.
-
(2002)
Williams Textbook of Endocrinology
, pp. 491-551
-
-
Stewart, P.M.1
-
5
-
-
10344266972
-
Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates
-
DOI 10.1210/jc.2004-0473
-
Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, Toyoura T, et al. Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. J Clin Endocrinol Metab 2004;89:6087-91. (Pubitemid 39628418)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.12
, pp. 6087-6091
-
-
Homma, K.1
Hasegawa, T.2
Takeshita, E.3
Watanabe, K.4
Anzo, M.5
Toyoura, T.6
Jinno, K.7
Ohashi, T.8
Hamajima, T.9
Takahashi, Y.10
Takahashi, T.11
Matsuo, N.12
-
6
-
-
3042535976
-
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis
-
Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, et al. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet A 2004;128:A223-31.
-
(2004)
Am J Med Genet A
, vol.128
-
-
Shackleton, C.1
Marcos, J.2
Malunowicz, E.M.3
Szarras-Czapnik, M.4
Jira, P.5
Taylor, N.F.6
-
7
-
-
66149119440
-
Cytochrome P450 oxidoreductase deficiency: Identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients
-
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, et al. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab 2009;94:1723-31.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1723-1731
-
-
Fukami, M.1
Nishimura, G.2
Homma, K.3
Nagai, T.4
Hanaki, K.5
Uematsu, A.6
-
8
-
-
0942298678
-
Reference Values for Urinary Steroids in Japanese Newborn Infants: Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring
-
DOI 10.1507/endocrj.50.783
-
Homma K, Hasegawa T, Masumoto M, Takeshita E, Watanabe K, Chiba H, et al. Reference values for urinary steroids in Japanese newborn infants: gas chromatography/mass spectrometry in selected ion monitoring. Endocr J 2003;50:783-92. (Pubitemid 38139964)
-
(2003)
Endocrine Journal
, vol.50
, Issue.6
, pp. 783-792
-
-
Homma, K.1
Hasegawa, T.2
Masumoto, M.3
Takeshita, E.4
Watanabe, K.5
Chiba, H.6
Kurosawa, T.7
Takahashi, T.8
Matsuo, N.9
-
9
-
-
0036345166
-
The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens
-
DOI 10.1210/jc.87.8.3682
-
Caulfield MP, Lynn T, Gottschalk ME, Jones KL, Taylor NF, Malunowicz EM, et al. The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens. J Clin Endocrinol Metab 2002;87:3682-90. (Pubitemid 34879513)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.8
, pp. 3682-3690
-
-
Caulfield, M.P.1
Lynn, T.2
Gottschalk, M.E.3
Jones, K.L.4
Taylor, N.F.5
Malunowicz, E.M.6
Shackleton, C.H.L.7
Reitz, R.E.8
Fisher, D.A.9
-
10
-
-
3142718883
-
Gas chromatography-mass spectrometry profiling of steroids in times of molecular biology
-
DOI 10.1055/s-2004-814565
-
Wudy SA, Hartmann MF. Gas chromatographymass spectrometry profiling of steroids in times of molecular biology. Horm Metab Res 2004;36:415-22. (Pubitemid 38932100)
-
(2004)
Hormone and Metabolic Research
, vol.36
, Issue.6
, pp. 415-422
-
-
Wudy, S.A.1
Hartmann, M.F.2
-
12
-
-
0037317265
-
5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate
-
DOI 10.1210/en.2002-220721
-
Wilson JD, Auchus RJ, Leihy MW, Guryev OL, Estabrook RW, Osborn SM, et al. 5alpha-Androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate. Endocrinology 2003;144:575-80. (Pubitemid 36205230)
-
(2003)
Endocrinology
, vol.144
, Issue.2
, pp. 575-580
-
-
Wilson, J.D.1
Auchus, R.J.2
Leihy, M.W.3
Guryev, O.L.4
Estabrook, R.W.5
Osborn, S.M.6
Shaw, G.7
Renfree, M.B.8
-
13
-
-
33745790703
-
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: Implication for the backdoor pathway to dihydrotestosterone
-
DOI 10.1210/jc.2005-2460
-
Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, et al. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J Clin Endocrinol Metab 2006;91:2643-9. (Pubitemid 44024631)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.7
, pp. 2643-2649
-
-
Homma, K.1
Hasegawa, T.2
Nagai, T.3
Adachi, M.4
Horikawa, R.5
Fujiwara, I.6
Tajima, T.7
Takeda, R.8
Fukami, M.9
Ogata, T.10
-
14
-
-
33751529747
-
Extensive clinical experience: Nonclassical 21-hydroxylase deficiency
-
DOI 10.1210/jc.2006-1645
-
New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4205-14. (Pubitemid 44833386)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.11
, pp. 4205-4214
-
-
New, M.I.1
-
15
-
-
43449120436
-
Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood
-
DOI 10.1507/endocrj.K07E-057
-
Kashimada K, Ono M, Onishi T, Koyama S, Toyoura T, Imai K, et al. Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood. Endocr J 2008;55:397-404. (Pubitemid 351670968)
-
(2008)
Endocrine Journal
, vol.55
, Issue.2
, pp. 397-404
-
-
Kashimada, K.-I.1
Ono, M.2
Onishi, T.3
Koyama, S.4
Toyoura, T.5
Imai, K.6
Saisho, S.7
Mizutani, S.8
-
16
-
-
33846253582
-
The emergence of the cortisol circadian rhythm in monozygotic and dizygotic twin infants: The twin-pair synchrony
-
DOI 10.1111/j.1365-2265.2006.02706.x
-
Custodio RJ, Junior CE, Milani SL, Simões AL, de Castro M, Moreira AC. The emergence of the cortisol circadian rhythm in monozygotic and dizygotic twin infants: the twin-pair synchrony. Clin Endocrinol (Oxf) 2007;66:192-7. (Pubitemid 46096137)
-
(2007)
Clinical Endocrinology
, vol.66
, Issue.2
, pp. 192-197
-
-
Custodio, R.J.1
Martinelli Jr., C.E.2
Milani, S.L.S.3
Simoes, A.L.4
De Castro, M.5
Moreira, A.C.6
-
18
-
-
19944429961
-
Cytochrome P450 oxidoreductase gene mutations and antley-bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: Molecular and clinical studies in 10 patients
-
DOI 10.1210/jc.2004-0810
-
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, et al. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab 2005;90:414-26. (Pubitemid 40116690)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.1
, pp. 414-426
-
-
Fukami, M.1
Horikawa, R.2
Nagai, T.3
Tanaka, T.4
Naiki, Y.5
Sato, N.6
Okuyama, T.7
Nakai, H.8
Soneda, S.9
Tachibana, K.10
Matsuo, N.11
Sato, S.12
Homma, K.13
Nishimura, G.14
Hasegawa, T.15
Ogata, T.16
-
19
-
-
20244367932
-
Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
-
DOI 10.1086/429417
-
Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 2005;76:729-49. (Pubitemid 40563096)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, pp. 729-749
-
-
Huang, N.1
Pandey, A.V.2
Agrawal, V.3
Reardon, W.4
Lapunzina, P.D.5
Mowat, D.6
Jabs, E.W.7
Van Vliet, G.8
Sack, J.9
Fluck, C.E.10
Miller, W.L.11
-
20
-
-
34547465321
-
Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P
-
DOI 10.1210/me.2007-0066
-
Dhir V, Ivison HE, Krone N, Shackleton CH, Doherty AJ, Stewart PM, Arlt W. Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P. Mol Endocrinol 2007;21:1958-68. (Pubitemid 47173803)
-
(2007)
Molecular Endocrinology
, vol.21
, Issue.8
, pp. 1958-1968
-
-
Dhir, V.1
Ivison, H.E.2
Krone, N.3
Shackleton, C.H.L.4
Doherty, A.J.5
Stewart, P.M.6
Arlt, W.7
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