Smith Lemli Opitz Syndrome - Public Health

Relevant Publications

Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult.

Issue Release: 2024

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

Issue Release: 2024

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Issue Release: 2024

Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.

Issue Release: 2024

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic mutations.

Issue Release: 2024

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.

Issue Release: 2024

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.

Issue Release: 2024

Cholesterol regulates insulin-induced mTORC1 signaling.

Issue Release: 2023

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Issue Release: 2023

Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation.

Issue Release: 2023

Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.

Issue Release: 2023

Temporal gene expression changes and affected pathways in neurodevelopment of a mouse model of Smith-Lemli-Opitz syndrome.

Issue Release: 2023

MALDI-IM-MS Imaging of Brain Sterols and Lipids in a Mouse Model of Smith-Lemli-Opitz Syndrome.

Issue Release: 2023

Smith-Lemli-Opitz syndrome: A pathophysiological manifestation of the Bloch hypothesis.

Issue Release: 2023

Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations.

Issue Release: 2023

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.

Issue Release: 2023

Effect of maternal polycystic ovary syndrome (PCOS) on screening of aneuploidy in the first and second trimesters.

Issue Release: 2023

How to Manage Low Estriol Levels in Pregnancies, One Center Experience.

Issue Release: 2022

A reliable tool for detecting 7-dehydrocholesterol and cholesterol in human plasma and its use in diagnosis of Smith-Lemli-Opitz syndrome.

Issue Release: 2022

7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndrome.

Issue Release: 2022

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