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Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.
Kritzer A, Dutta R, Pramparo T, Terner-Rosenthal J, Vig P, Steiner RD. Kritzer A, et al. Genet Med. 2025 Jul;27(7):101450. doi: 10.1016/j.gim.2025.101450. Epub 2025 Apr 29. Genet Med. 2025. PMID: 40314187 Free article. Review.
Smith-Lemli-Opitz syndrome (SLOS), also known as RSH syndrome, is an inborn error of cholesterol biosynthesis first described in 1964. ...
Smith-Lemli-Opitz syndrome (SLOS), also known as RSH syndrome, is an inborn error of cholesterol biosynthesis fi …
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.
Li W, Pergande MR, Serna-Perez F, Patel V, Crutchfield CA, Searle BC, Picache JA, Farhat NM, Wassif CA, Backlund PS, Bianconi S, Pacak K, Freel BA, Francis KR, Porter FD, Cologna SM. Li W, et al. J Proteome Res. 2025 Aug 1;24(8):4154-4165. doi: 10.1021/acs.jproteome.5c00282. Epub 2025 Jul 9. J Proteome Res. 2025. PMID: 40631482 Free PMC article.
Smith-Lemli-Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by pathological variants in the 7-dehydrocholesterol reductase gene (DHCR7), leading to impaired cholesterol biosynthesis. ...
Smith-Lemli-Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by pathological …
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Ferren E, Hillman PR, Kritzer A, Ray J, Serrano A, Northrup H, Roberts P, Dutta R, Pramparo T, Vig P, Steiner RD. Ferren E, et al. Orphanet J Rare Dis. 2025 Jul 28;20(1):381. doi: 10.1186/s13023-025-03914-x. Orphanet J Rare Dis. 2025. PMID: 40722188 Free PMC article.
BACKGROUND: Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic pathogenic variants in DHCR7, which encodes the enzyme 7-dehydrocholesterol reductase (DHCR7). ...
BACKGROUND: Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis cau …
Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Selvaraman A, Rahhal S, Bianconi S, Furnary T, Porter FD. Selvaraman A, et al. Am J Med Genet A. 2025 Feb;197(2):e63875. doi: 10.1002/ajmg.a.63875. Epub 2024 Sep 13. Am J Med Genet A. 2025. PMID: 39271956 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR7, resulting in a deficiency in the enzyme 7-dehydrocholesterol reductase. ...
Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by pathological variants in DHCR …
A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K. Westbye AB, et al. J Lipid Res. 2025 Jan;66(1):100698. doi: 10.1016/j.jlr.2024.100698. Epub 2024 Nov 19. J Lipid Res. 2025. PMID: 39566847 Free PMC article.
Serum from patients with the rare lipid disorders sitosterolemia (n = 7), Smith-Lemli-Opitz syndrome (SLOS; n = 1), and cerebrotendinous xanthomatosis (CTX; n = 1) were analyzed. ...
Serum from patients with the rare lipid disorders sitosterolemia (n = 7), Smith-Lemli-Opitz syndrome (SLOS; n = …
The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Elias ER. Elias ER. J Steroid Biochem Mol Biol. 2025 Nov;254:106822. doi: 10.1016/j.jsbmb.2025.106822. Epub 2025 Jul 1. J Steroid Biochem Mol Biol. 2025. PMID: 40609800 Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder associated with complex anatomic abnormalities, accompanied by medical, developmental and behavioral challenges. ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder associated with complex anatomic ab …
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Żukowska A, Król M, Kupnicka P, Bąk K, Janawa K, Chlubek D. Żukowska A, et al. Int J Mol Sci. 2025 Jul 11;26(14):6672. doi: 10.3390/ijms26146672. Int J Mol Sci. 2025. PMID: 40724921 Free PMC article. Review.
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the DHCR7 gene, which encodes the enzyme responsible for the final step in cholesterol biosynthesis. ...
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the DHC …
Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.
Luke RA, Cawley NX, Rahhal S, Selvaraman A, Thurm A, Wassif CA, Porter FD. Luke RA, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108570. doi: 10.1016/j.ymgme.2024.108570. Epub 2024 Aug 30. Mol Genet Metab. 2024. PMID: 39244853 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is a rare, multiple malformation/intellectual disability disorder caused by pathogenic variants of DHCR7. ...
Smith-Lemli-Opitz syndrome (SLOS) is a rare, multiple malformation/intellectual disability disorder caused by pa …
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.
Kawatani K, Baker SK, Yaeger JDW, Anderson RH, Ren Y, Li Z, Bao H, Han X, Francis KR, Kanekiyo T. Kawatani K, et al. Hum Mol Genet. 2025 Nov 18;34(23):1991-2003. doi: 10.1093/hmg/ddaf159. Hum Mol Genet. 2025. PMID: 41076637 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disorder characterized by congenital malformations, intellectual disability, and behavioral abnormalities. ...
Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disorder characterized by congenital malformati …
Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.
Korade Z, Anderson AC, Balog M, Tallman KA, Porter NA, Mirnics K. Korade Z, et al. Biomolecules. 2025 Apr 10;15(4):562. doi: 10.3390/biom15040562. Biomolecules. 2025. PMID: 40305315 Free PMC article.
Smith-Lemli-Opitz syndrome (SLOS) is a developmental disability arising from bi-allelic pathogenic variants in the 7-dehydrocholestrol reductase (DHCR7) enzyme and the accumulation of 7-dehydrocholesterol (7-DHC). 7-DHC spontaneously oxidizes and gives …
Smith-Lemli-Opitz syndrome (SLOS) is a developmental disability arising from bi-allelic pathogenic variants in t …
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