The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
Open accessAbstract
A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography/mass spectrometry for diagnosis of Smith-Lemli-Opitz syndrome, an apparent primary defect of cholesterol biosynthesis associated with low plasma levels of cholesterol and high levels of its precursor, 7DHC. Results are summarized for specimens from normal controls and from 40 patients with Smith-Lemli-Opitz syndrome (SLOS). Whereas the concentration of 7DHC (as a combined peak of 7DHC and iso-7DHC) in normal infant plasma was found to be 0.10 +/- 0.05 (S.D.) microgram/ml, the level in patients with SLOS ranged from 2.7 to 470 micrograms/ml, or from 10 to more than 2000 times the upper limit of normal. Patients with milder type I SLOS as well as those with the more severe type II SLOS were found to have the same sterol abnormality. Although most infants with SLOS had plasma cholesterol levels lower than 400 micrograms/ml (40 mg/dl), several older children with only mildly increased levels of 7DHC had normal plasma cholesterol levels. Diagnostically useful, comparably increased levels of 7DHC were found in amniotic fluid and cultured skin fibroblasts from patients with SLOS. More mildly increased levels of 7DHC were also found in both plasma and cultured skin fibroblasts of SLOS heterozygotes. The method described uses capillary columns and GC/MS instrumentation available in most biochemical genetics laboratories and should prove useful not only for diagnosis and prenatal diagnosis of Smith-Lemli-Opitz syndrome, but also for identification of other possible inborn errors of sterol biosynthesis.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“The SLOS anatomical severity score and gross neurologic pathology inversely correlate with cholesterol and the ratio of 7DHC + 8-dehydrocholesterol (8DHC) to cholesterol [48, 49];”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [48]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
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
β-Sitosterolemia and Xanthomatosis
Bhattacharyya, A. K., & Connor, W. E. (1974) · Journal of Clinical Investigation · doi:10.1172/jci107640 · Cited by 584
Eneroth, P. H. E., Hellström, K., & Ryhage, R. (1964) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)40246-9 · Cited by 275
Curry, C. J., Carey, J. C., Holland, J. S., Chopra, D. R., Fineman, R. M., Golabi, M., Sherman, S., Pagon, R. A., Allanson, J. E., Shulman, S., et al. (1987) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320260110 · Cited by 225
Kandutsch, A. A., & Russell, A. E. (1960) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)64608-3 · Cited by 217
Berginer, V. M., Abeliovich, D., & Opitz, J. M. (1981) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320100209 · Cited by 70
Donnai, D., Young, I. D., Owen, W. G., Clark, S., Miller, P. F., & Knox, W. F. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.1.64 · Cited by 67
Chasalow, F. I., Blethen, S. L., & Taysi, K. (1985) · Steroids · doi:10.1016/0039-128x(85)90032-7 · Cited by 65
Abnormal bile acids in the Smith‐Lemli‐Opitz syndrome
Natowicz, M. R., & Evans, J. E. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320500413 · Cited by 63
Cited by
Sorted by citations
Items 201–230 of 230
Nádvorníková, J., Skopalová, J., Krejčí, P., Bednář, P., & Barták, P. (2023) · Journal of Food Composition and Analysis · doi:10.1016/j.jfca.2023.105471 · Cited by 2
Craniofacial bone anomalies related to cholesterol synthesis defects
Iwaya, C., Suzuki, A., Shim, J., Kim, A., & Iwata, J. (2024) · Scientific Reports · doi:10.1038/s41598-024-55998-3 · Cited by 5
A Case of Smith-Lemli-Opitz Syndrome, Defect of Cholesterol Biosynthesis
Domizio, S., Pallotta, R., Romanelli, A., Puglielli, C., Pollice, R., CASACCHIA, M., Conte, E., Domizio, R., & Sabatino, G. (2006) · International Journal of Immunopathology and Pharmacology · doi:10.1177/039463200601900220 · Cited by 2
Anderson, R. H., Sochacki, K. A., Vuppula, H., Scott, B. L., Bailey, E. M., Schultz, M. M., Kerkvliet, J. G., Taraska, J. W., Hoppe, A. D., & Francis, K. R. (2021) · SSRN Electronic Journal · doi:10.2139/ssrn.3805160 · Cited by 2
Andersson (1999) · doi:10.1002/(sici)1096-8628(19990219)82:5 · Cited by 1
Self-citation'Identical' twins with discordant karyotypes
(1999) · Pure Amsterdam UMC · doi:10.1002/(sici)1097-0223(199901)19:1 · Cited by 1
Self-citationHackl, L., Haberlandt, E., Müller, T., Piribauer, S., Garczarczyk‐Asim, D., Zöggeler, T., Karall, D., Zschocke, J., & Janecke, A. (2025) · Genes · doi:10.3390/genes16070838 · Cited by 2
Diagnóstico pré-natal de Síndrome de Smith-Lemli-Opitz
Cardoso, M. L., Fortuna, A. M., Castedo, S. M. M. J., Martins, M., Montenegro, N. A. M. D. M., Jakobs, C., Clayton, P. T., & Vilarinho, L. (2005) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · Cited by 1
Severe phenotype of X‐linked dominant chondrodysplasia punctata
Damseh, N. S., Chong, K., Marshall, C. R., Kratz, L. E., Teitelbaum, R., Shannon, P. T., & Kannu, P. (2017) · Clinical Case Reports · doi:10.1002/ccr3.1008 · Cited by 1
Oh, M.-Y., Kim, J. S., Kim, J. H., Cho, J. H., Lee, B. H., Kim, G.-H., Choi, J., & Yoo, H. (2014) · Journal of genetic medicine · doi:10.5734/jgm.2014.11.2.106 · Cited by 1
Disordered cholesterol metabolism in autism spectrum disorders sterol and genetic analyses
Pearson, J. (2010) · doi:10.6083/m4ht2m8j · Cited by 1
Rockwood, A. L., Annesley, T. M., & Sherman, N. E. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-6164-9.00014-7 · Cited by 1
Vanderver, A. L., & Gropman, A. L. (2007) · Humana Press eBooks · doi:10.1007/978-1-59259-888-5_22 · Cited by 1
Tierney, E., & Sarphare, G. (2021) · Springer eBooks · doi:10.1007/978-3-319-91280-6_1544 · Cited by 1
Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of DiseasesPreprint
Asgari, M. A., Yutuc, E., Abdel‐Khalik, J., Crick, P. J., Morris, A. A. M., Jones, S. A., Ghosh, A., Curnock, R., Hart, C., Schöls, L. J., et al. (2025) · medRxiv · doi:10.1101/2025.06.23.25328695 · Cited by 1
Current Issues Regarding Prenatal Diagnosis of Inborn Errors of Cholesterol Biosynthesis
Lus, M., Barbosa, M., Maria, A., & Marques, F. (2012) · InTech eBooks · doi:10.5772/27581
Gambaro, V., Farè, F., Barlocco, A., Maggi, F., Simoni, G., Dell’Acqua, L., Rusconi, C., & Roda, G. (2014) · American Journal of Analytical Chemistry · doi:10.4236/ajac.2014.54031
Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome
Nowaczyk, M. G. J. M. (2000) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(200002)20:2
Regulation of metabolism by the oncoprotein c-Myc
Edmunds, L. R. (2015) · D-Scholarship@Pitt (University of Pittsburgh)
3. The role of cholesterol in disorders of brain and behavior: human and animal perspectives
Stevenson, R. J., & Francis, H. (2016) · Wageningen Academic Publishers eBooks · doi:10.3920/978-90-8686-821-6_3
Disorders of the Adrenal Cortex in the Fetus and Neonate
Khattab, A., Narasimhan, M. L., Macdonald, A., Costin, G., & New, M. I. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814823-5.00048-9
Disorders of Cholesterol Synthesis
Hoffmann, G. F., & Haas, D. (2000) · Springer eBooks · doi:10.1007/978-3-662-04285-4_29
Evans, M. I., Yaron, Y., Kleinman, C. S., & Flake, A. W. (2007) · doi:10.1002/9780470753293.ch34
Electrospray Tandem Mass Spectrometry in the Biochemical Genetics Laboratory
Rashed, M. S. (2003) · CRC Press eBooks · doi:10.1201/9780203911105.ch10
Al-Soofi, S. J., Zekavati, R., & Asl, J. M. (2022) · Al-Kufa University Journal for Biology · doi:10.36320/ajb/v14.i2.11707
Lipid-Related Pathophysiology of ASD
Noah, K. K., & Tierney, E. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_8
Huang, Z., Luo, Y., Zhang, C., Wei, W., Li, Y., Li, Y., Zhang, Q., Rao, Y., & Zhang, C. (2025) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2025.106682
Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2
Self-citation- Self-citation
Metadata
- Authors
- Kelley, R. I.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Kelley, Richard I.
- ORCID
- Kelley, Richard I.
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 1995-04
- Volume
- 236
- Issue
- 1
- Pages
- 45-58
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W2038396364
- Cited by
- 234
- References
- 16
- Citations by year
- 2025: 6 · 2024: 4 · 2023: 2 · 2022: 6 · 2021: 8 · 2020: 7 · 2019: 4 · 2018: 6 · 2017: 4 · 2016: 4 · 2015: 11 · 2014: 8 · 2013: 10 · 2012: 9
- FWCI
- 6.03
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Clinica Chimica Acta (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- National Institutes of Health
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD07107, HD24061, HD-10981, P30HD024061, P01HD010981)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, cholesterol biosynthesis, neutral sterols, serum cholesterol, amniotic fluid, cultured skin fibroblasts, prenatal diagnosis, heterozygotes
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Amniotic Fluid, Cells, Cultured, Child, Child, Preschool, Cholesterol, Dehydrocholesterols, Fibroblasts, Humans, Infant, Lipid Metabolism, Inborn Errors, Gas Chromatography-Mass Spectrometry, Skin, Sterols, Molecular Structure
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
