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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In the citing paper
“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
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Flagged first, then by citations
1 of the 38 references couldn’t be matched to a known paper.
Research works printed but not linked: 3
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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
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Congenital adrenal hyperplasia
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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
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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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