Cited by 368Cholesterol and Lipid MetabolismMetabolism and Genetic DisordersLysosomal Storage Disorders Research

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

Irons, Mira, Roy Elias, Ellen, Salen, Gerald, Tint, G.S., Batta, AshokK.·1993·The Lancet

DOI 10.1016/0140-6736(93)90983-n

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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
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Self-citation
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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
DOI: 10.1016/0140-6736(93)90983-n
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
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

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

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