Found: 21
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Characteristic external genitalia in male neonates with 5α-reductase deficiency.
- Published in:
- Endocrine Journal, 2024, v. 71, n. 10, p. 973, doi. 10.1507/endocrj.EJ23-0740
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- Publication type:
- Article
Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 5, p. 1723, doi. 10.1210/jc.2008-2816
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- Publication type:
- Article
Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
- Published in:
- 2006
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- Publication type:
- journal article
Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 1, p. 414, doi. 10.1210/jc.2004-0810
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- Publication type:
- Article
Elevated Urine Pregnanetriolone Definitively Establishes the Diagnosis of Classical 21-Hydroxylase Deficiency in Term and Preterm Neonates.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 6087, doi. 10.1210/jc.2004-0473
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- Publication type:
- Article
Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3431, doi. 10.1210/jc.2002-021415
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- Publication type:
- Article
Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour.
- Published in:
- 2020
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- Publication type:
- journal article
Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β-Hydroxyandrosterone
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 4, p. 741, doi. 10.1373/clinchem.2011.173286
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- Publication type:
- Article
Two neonatal cholestasis patients with mutations in the SRD5B1 ( AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 3, p. 565, doi. 10.1007/s10545-012-9526-6
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- Publication type:
- Article
Backdoor pathway for dihydrotestosterone biosynthesis: Implications for normal and abnormal human sex development.
- Published in:
- Developmental Dynamics, 2013, v. 242, n. 4, p. 320, doi. 10.1002/dvdy.23892
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- Publication type:
- Article
Influence of dutasteride treatment on serum hormone levels and aging male symptoms in patients with benign prostatic enlargement.
- Published in:
- International Journal of Urology, 2018, v. 25, n. 1, p. 70, doi. 10.1111/iju.13470
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- Publication type:
- Article
Discordant Genotype-Phenotype Correlation in Familial Hyperaldosteronism Type III with KCNJ5 Gene Mutation: A Patient Report and Review of the Literature.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 2, p. 138, doi. 10.1159/000358197
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- Publication type:
- Article
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5a-reductase type 2 deficiency.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 9, p. 837, doi. 10.1507/endocrj.ej19-0111
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- Publication type:
- Article
Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 1, p. 51, doi. 10.1507/endocrj.ej12-0248
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- Publication type:
- Article
A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol.
- Published in:
- Tohoku Journal of Experimental Medicine, 2013, v. 230, n. 6, p. 75, doi. 10.1620/tjem.231.75
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- Publication type:
- Article
Adrenocortical carcinoma characterized by gynecomastia: A case report.
- Published in:
- Clinical Pediatric Endocrinology, 2018, v. 27, n. 1, p. 9, doi. 10.1297/cpe.27.9
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- Publication type:
- Article
Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.
- Published in:
- Clinical Pediatric Endocrinology, 2016, v. 25, n. 2, p. 37, doi. 10.1297/cpe.25.37
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- Publication type:
- Article
Nitric oxide-cGMP signaling regulates axonal elongation during optic nerve regeneration in the goldfish in vitro and in vivo.
- Published in:
- Journal of Neurochemistry, 2009, v. 110, n. 3, p. 890, doi. 10.1111/j.1471-4159.2009.06182.x
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- Publication type:
- Article
Close examination of steroidogenesis disorders in a DOC- and progesterone-producing adrenocortical carcinoma.
- Published in:
- Endocrine (1355008X), 2009, v. 35, n. 1, p. 25, doi. 10.1007/s12020-008-9123-5
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- Publication type:
- Article
Distinguishing primary from secondary Δ<sup>4</sup>-3-oxosteroid 5β-reductase ( SRD5B1, AKR1D1) deficiency by urinary steroid analysis.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 3, p. 346, doi. 10.1111/cen.12596
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- Publication type:
- Article
Comprehensive genetic analyses of primary adrenal failure without enzymatic defects.
- Published in:
- 2013
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- Publication type:
- Abstract