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Last Updated: 10/31/2025
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Found 656 publications
Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.
Journal: Cureus
Published: August 24, 2025
Macrophage signaling and function are regulated by distinct sterol biochemistries.
Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025
Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.
Journal: Human molecular genetics
Published: July 26, 2025
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.
Journal: Journal of proteome research
Published: July 09, 2025
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.
Journal: International journal of molecular sciences
Published: May 30, 2025
Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS).
Journal: Journal of rare diseases (Berlin, Germany)
Published: May 15, 2025
Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.
Journal: Biomolecules
Published: January 30, 2025
The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS).
Journal: The Journal of steroid biochemistry and molecular biology
Published: January 16, 2025
Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.
Journal: Biomedicines
Published: January 13, 2025
Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.
Journal: Orphanet journal of rare diseases
Published: December 23, 2024
Last Updated: 10/31/2025