Smith-Lemli-Opitz Syndrome Latest Advances

Find the Latest Research About Smith-Lemli-Opitz Syndrome

Last Updated: 02/24/2026

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Found 661 publications

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development.

Journal: Journal of clinical medicine
Published: October 16, 2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus
Published: August 24, 2025

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.

Journal: American journal of medical genetics. Part A
Published: August 22, 2025

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Journal: bioRxiv : the preprint server for biology
Published: August 20, 2025

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Journal: The Journal of steroid biochemistry and molecular biology
Published: August 14, 2025

Use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLOS): A single-center observational study, retrospective analysis and structured caregiver interview.

Use of a cholesterol emulsion in Smith-Lemli-Opitz syndrome (SLOS): A single-center observational study, retrospective analysis and structured caregiver interview.

Journal: Lipids in health and disease
Published: August 12, 2025

Compromised lipid metabolism, mitochondria respiration and neuroprotective effects in iPSC-derived astrocytes from a Smith-Lemli-Opitz syndrome patient.

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.

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.

Journal: Journal of proteome research
Published: July 09, 2025

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Journal: Genes
Published: June 17, 2025

Post-lanosterol inhibition profile based classification of commonly used prescription medications.

Post-lanosterol inhibition profile based classification of commonly used prescription medications.

Journal: Translational psychiatry
Published: June 13, 2025

Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.

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).

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
Showing 1-12 of 661

Last Updated: 02/24/2026