The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
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In the citing paper
“Smith–Lemli–Opitz syndrome (SLOS) is caused by the deficiency of 7-dehydrocholesterol (7DHC) reductase, the enzyme responsible for the last step of cholesterol biosynthesis [44], resulting from mutations in DHCR7 [45–47].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [44]
Citations
Cites
A newly recognized syndromeof multiple congenital anomalies
Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics · doi:10.1016/s0022-3476(64)80264-x · Cited by 650
Kandutsch, A. A., & Russell, A. E. (1960) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64608-3 · Cited by 217
Occurrence of isomeric dehydrocholesterols in human plasma.
Axelson, M. (1991) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)41911-x · Cited by 53
Smith‐Lemli‐Opitz Syndrome: Neuropathological and Ophthalmological Observations
Fierro, M. F., Martinez, A. J., Harbison, J. W., & Hay, S. H. (1977) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1977.tb08021.x · Cited by 50
Cited by
Sorted by citations
Free Radical Lipid Peroxidation: Mechanisms and Analysis
Yin, H., Xu, L., & Porter, N. A. (2011) · Chemical Reviews · doi:10.1021/cr200084z · Cited by 2,031
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638
Unusual case of Smith‐Lemli‐Opitz syndrome “type II”
Seller, M. J., Russell, J., & Tint, G. S. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320560305 · Cited by 584
Self-citationKrieger, M. (1999) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.68.1.523 · Cited by 517
Malformation syndromes caused by disorders of cholesterol synthesis
Porter, F. D., & Herman, G. E. (2011) · Journal of Lipid Research · doi:10.1194/jlr.r009548 · Cited by 473
Metadata
- Authors
- Irons, M., Roy Elias, E., Salen, G., Tint, G. S., & Batta, A.
- Affiliations
- Tufts University (US)
- East Orange VA Medical Center (US)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1993-05
- Volume
- 341
- Issue
- 8857
- Pages
- 1414
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2033187770
- Cited by
- 368
- References
- 4
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 4 · 2023: 8 · 2022: 3 · 2021: 13 · 2020: 5 · 2019: 1 · 2018: 4 · 2017: 7 · 2016: 8 · 2015: 9 · 2014: 9 · 2013: 13 · 2012: 14
- FWCI
- 14.72
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- Smith-Lemli-Opitz syndrome, cholesterol biosynthesis, cholesterol biosynthesis defect
- MeSH terms
- Abnormalities, Multiple, Child, Developmental Disabilities, Cholesterol, Female, Growth Disorders, Humans, Infant, Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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