Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

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

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

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

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

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

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

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

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.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Cross-sectional analysis of expressive and receptive language skills in Smith-Lemli-Opitz syndrome (SLOS).

Macrophage signaling and function are regulated by distinct sterol biochemistries.

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

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

Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): real-world patient outcomes.

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

The role of cholesterol biosynthesis and metabolism causing medical complexity in patients with Smith-Lemli-Opitz Syndrome (SLOS).

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Sleeping problems in children with neurodevelopmental disorders from a patient's and families perspective.

Smith-Lemli-Opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities.

Hydroxyzine Effects on Post-Lanosterol Biosynthesis in Smith-Lemli-Opitz Syndrome (SLOS) Models.

Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.

Comparison of 7-dehydrocholesterol and cholesterol in whole blood vs. plasma samples for diagnosis of SLOS.

Embryotoxicity of statins and other prescribed drugs with reported off-target effects on cholesterol biosynthesis.

Supplementation of diet with Astaxanthin and DHA prevents gestational and lactational undernourishment-induced metabolic derangements in dams: a metabolomic approach.

First documented case of Smith-Lemli-Opitz syndrome in Syria: clinical presentation, diagnosis, and experimental management with simvastatin.

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome.

Fetal Fentanyl Syndrome - Only the "tip of the iceberg"?

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.

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

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient.

Human Genetics of Hypoplastic Left Heart Syndrome.

Human Genetics of Atrial Septal Defect.

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.

Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations.

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

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

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

Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders.

Cholesterol regulates insulin-induced mTORC1 signaling.

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

A novel syndrome associated with prenatal fentanyl exposure.

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

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

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

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

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

Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up.

Morphological, biochemical, and transcriptomic characterization of iPSC-derived human RPE cells from normal and Smith-Lemli-Opitz syndrome patients.

Sterol dysregulation in Smith-Lemli-Opitz syndrome causes astrocyte immune reactivity through microglia crosstalk.

Statins for Smith-Lemli-Opitz syndrome.

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

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers.

Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome.

Desmosterol and 7-dehydrocholesterol concentrations in post mortem brains of depressed people: The role of trazodone.

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

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases.

Temporal changes in the brain lipidome during neurodevelopment of Smith-Lemli-Opitz syndrome mice.

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.

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

Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin-mediated endocytosis.

Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing.

[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].

Imaging of the Ciliary Cholesterol Underlying the Sonic Hedgehog Signal Transduction.

Smith-Lemli-Opitz Syndrome: Bosnian and Herzegovinian Experience.

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.

Late endosomal/lysosomal accumulation of a neurotransmitter receptor in a cellular model of Smith-Lemli-Opitz syndrome.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis.

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.

Effective sample preparation procedure for the analysis of free neutral steroids, free steroid acids and sterol sulfates in different tissues by GC-MS.

Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome.

Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis.

Auditory phenotype of Smith-Lemli-Opitz syndrome.

Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis.

Generation and validation of a conditional knockout mouse model for desmosterolosis.

Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome.

Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism.

EDITOR'S PERSPECTIVE: On the verge of translation: Combined cholesterol-antioxidant supplementation as a potential therapeutic intervention for Smith-Lemli-Opitz syndrome.

Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.

Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly.

[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome].

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy.

FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening.

Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.

Maternal cariprazine exposure inhibits embryonic and postnatal brain cholesterol biosynthesis.

GC-MS as a tool for reliable non-invasive prenatal diagnosis of Smith-Lemli-Opitz syndrome but essential also for other cholesterolopathies verification.

Genetic innovations and our understanding of stillbirth.

Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.

Fetal Pancake Kidney: Prenatal Diagnosis and Postnatal Follow-up.

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Mass Spectrometry for the Study of Autism and Neurodevelopmental Disorders.

The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.

Desmosterolosis and desmosterol homeostasis in the developing mouse brain.

Maternal aripiprazole exposure interacts with 7-dehydrocholesterol reductase mutations and alters embryonic neurodevelopment.

Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome.

Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?

Subcellular localization of sterol biosynthesis enzymes.

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

Intraluminal Pulmonary Vein Stenosis in Children: A "New" Lesion.

Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention.

Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome.

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.

Electrochemical nonenzymatic sensor for cholesterol determination in food.

Neuronal Dysfunction Associated with Cholesterol Deregulation.

Syndromes associated with holoprosencephaly.

Plasma oxysterol profiling in children reveals 24-hydroxycholesterol as a potential marker for Autism Spectrum Disorders.

Dichlorophenyl piperazines, including a recently-approved atypical antipsychotic, are potent inhibitors of DHCR7, the last enzyme in cholesterol biosynthesis.

Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.

SULFATION PATHWAYS: Alternate steroid sulfation pathways targeted by LC-MS/MS analysis of disulfates: application to prenatal diagnosis of steroid synthesis disorders.

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Smith-Lemli-Opitz Mutations in Unexplained Stillbirths.

Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol.

Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome.

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer.

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.

Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith-Lemli-Opitz syndrome.

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.

Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor.

Prevalence of four Mendelian disorders associated with autism in 2392 affected families.

Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.

Propagation rate constants for the peroxidation of sterols on the biosynthetic pathway to cholesterol.

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Cholesterolomics: An update.

Collet-Sicard syndrome secondary to viral infection with influenza A (H1N1).

DHCR7: A vital enzyme switch between cholesterol and vitamin D production.

Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report.

Phosphorylation regulates activity of 7-dehydrocholesterol reductase (DHCR7), a terminal enzyme of cholesterol synthesis.

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome.

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis.

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

Endogenous B-ring oxysterols inhibit the Hedgehog component Smoothened in a manner distinct from cyclopamine or side-chain oxysterols.

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Brain Cholesterol Metabolism and Its Defects: Linkage to Neurodegenerative Diseases and Synaptic Dysfunction.

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome.

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Ankyloglossia with cleft lip: A rare case report.

Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.

Differential cytotoxic effects of 7-dehydrocholesterol-derived oxysterols on cultured retina-derived cells: Dependence on sterol structure, cell type, and density.

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts.

Metabolic Precursor of Cholesterol Causes Formation of Chained Aggregates of Liquid-Ordered Domains.

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].

Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome.

Detection Rates for Aneuploidy by First-Trimester and Sequential Screening.

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome.

[Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report].

Outcomes of pregnancies with more than one positive prenatal screening result in the first or second trimester.

A compendium of expression patterns of cholesterol biosynthetic enzymes in the mouse embryo.

The Role of Dietary Cholesterol in Lipoprotein Metabolism and Related Metabolic Abnormalities: A Mini-review.

LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism.

Profiling and Imaging Ion Mobility-Mass Spectrometry Analysis of Cholesterol and 7-Dehydrocholesterol in Cells Via Sputtered Silver MALDI.

Estrogen enhances secretion of apolipoprotein B-100 containing lipoproteins by BeWo cells.

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Cholesterol in myelin biogenesis and hypomyelinating disorders.

Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.