The DOI matches its Crossref record; 37 of the 38 references it cites were found in a registry or an index.
17-Hydroxylation deficiency in man
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The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“The initial description of 17␣-hydroxylase deficiency was a case in which both 17␣-hydroxylase and 17,20lyase products were absent (261).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
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“As a result, affected females are phenotypically normal but fail to undergo adrenarche and puberty (261),”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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“The classical presentation is that of a teenage female with sexual infantilism and hypertension (261,264).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [261]
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Citations
Cites
Practical Physiological Chemistry
(1938) · JAMA · doi:10.1001/jama.1938.02790100062037 · Cited by 1,364
On the Enzymatic Determination of Blood Glucose
Raabo, B. E., & Terkildsen, T. C. (1960) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365516009065404 · Cited by 925
PRACTICAL PHYSIOLOGICAL CHEMISTRY
HAWK, P. B., Oser, B. L., & SUMMERSON, W. H. (1955) · The American Journal of the Medical Sciences · doi:10.1097/00000441-195507000-00025 · Cited by 908
THE DETERMINATION OF 17, 21-DIHYDROXY-20-KETOSTEROIDS IN URINE AND PLASMA
SILBER, R. H., & Porter, C. C. (1954) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)65419-5 · Cited by 779
STEELMAN, S. L., & Pohley, F. M. (1953) · Endocrinology · doi:10.1210/endo-53-6-604 · Cited by 698
Double Isotope Derivative Assay of Aldosterone in Biological Extracts
Kliman, B., & Peterson, R. E. (1960) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)76855-0 · Cited by 592
Cotlove, E., Trantham, H. V., & Bowman, R. L. (1958) · PubMed · Cited by 427
NEW PROCEDURES FOR MEASUREMENT OF HUMAN PLASMA ANGIOTENSIN AND RENIN ACTIVITY LEVELS.
Boucher, R., Veyrat, R., de Champlain, J., & Genest, J. (1964) · PubMed Central · Cited by 401
AN IMMUNOCHEMICAL ASSAY OF TOTAL EXTRACTABLE INSULIN IN MAN *
Grodsky, G. M., & Forsham, P. H. (1960) · Journal of Clinical Investigation · doi:10.1172/jci104122 · Cited by 350
The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase
Bongiovanni, A. M. (1962) · Journal of Clinical Investigation · doi:10.1172/jci104666 · Cited by 304
Research works printed but not linked: 3
- [12]12. Riondel, A., J. F. Tait, S. A. S. Tait, M. Gut, and B. Little.' Estimation of progesterone in human peripheral blood using 'S-thiosemicarbazide. J. clin. Endocr. 1965, 25, 229.
- [14]14. Horton, R. Estimation of androstenedione in human peripheral blood with 'S-thiosemicarbazide. J. clin. Endocr. 1965, 25, 1237.
- [31]31. Biglieri, E. G., P. E. Slaton, Jr., W. S. Silen, M. Galante, and P. H. Forsham. Postoperative stud- ies of adrenal function in primary aldosteronism. J. clin. Endocr. 1966, 26, 553.
Cited by
Sorted by citations
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,420
Congenital adrenal hyperplasia
Speiser, P. W., & White, P. C. (2003) · New England Journal of Medicine · doi:10.1056/nejmra021561 · Cited by 1,405
Congenital adrenal hyperplasia
El-Maouche, D., Arlt, W., & Merke, D. P. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31431-9 · Cited by 669
Familial Incomplete Male Pseudohermaphroditism, Type 2
Walsh, P. C., Madden, J. D., Harrod, M. J., Goldstein, J. L., MacDonald, P. C., & Wilson, J. D. (1974) · New England Journal of Medicine · doi:10.1056/nejm197410312911806 · Cited by 621
Metadata
- Authors
- Biglieri, E. G., Herron, M. A., & Brust, N.
- Affiliations
- San Francisco General Hospital (US)
- Venue
- Journal of Clinical Investigation
- Published
- 1966-12-01
- Volume
- 45
- Issue
- 12
- Pages
- 1946-1954
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC292880
- OpenAlex
- W2025408018
- Semantic Scholar
- 4321404e8c055df66091f50f82aa9945d6208f8d
- Cited by
- 561
- References
- 38
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 5 · 2023: 16 · 2022: 14 · 2021: 6 · 2020: 7 · 2019: 9 · 2018: 5 · 2017: 12 · 2016: 7 · 2015: 15 · 2014: 13 · 2013: 14 · 2012: 10
- FWCI
- 6.02
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Cisco Systems
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, steroidogenesis, adrenal cortex, 17-hydroxyprogesterone
- MeSH terms
- Adrenal Glands, Adrenocorticotropic Hormone, Adult, Corticosterone, Desoxycorticosterone, Diet, Sodium-Restricted, Female, Humans, Mixed Function Oxygenases, Hydroxyprogesterones, Metabolism, Inborn Errors, Metyrapone, Natriuresis, Potassium, Progesterone
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