Smith-Lemli-Opitz Syndrome Latest Advances

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Journal: Genes

Published: December 19, 2025

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

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal: Journal of addiction medicine

Published: September 25, 2025

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Journal: American journal of medical genetics. Part A

Published: September 23, 2025

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.

Journal: American journal of medical genetics. Part A

Published: August 22, 2025

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.

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.

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.

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

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

Smith-Lemli-Opitz Syndrome Latest Advances

Find the Latest Research About Smith-Lemli-Opitz Syndrome

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

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.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

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.

Macrophage signaling and function are regulated by distinct sterol biochemistries.

Macrophage signaling and function are regulated by distinct sterol biochemistries.

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.

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.

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.

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

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

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.