SLS or not SLS. Sjögren-Larsson syndrome

D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.

Journal of child neurology·2000

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Human mutation·1998

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

Hereditas·1998

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

Human genetics·1997

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

Nature genetics·1994

Monoaminergic dysfunction in Sjögren-Larsson syndrome.

Molecular and chemical neuropathology·1991

Sleep Disordered Breathing in Joubert Syndrome: Disease Spectrum in a Pediatric Cohort.

Pediatric neurology·2026

Patient and Family Perspectives on Point-of-Care Low-Field Brain Magnetic Resonance Imaging for Children in the Emergency Department, Intensive Care Unit, and Hospital Setting.

Pediatric neurology·2026

Training Pathways, Workforce Distribution, and Professional Practice of Child Neurologists in Brazil: A Cross-Sectional Study With Implications for Access to Care.

Pediatric neurology·2026

Insula Injury and State Change Predict Outcome in Cooled Neonatal Hypoxic Ischemic Encephalopathy Patients: A Pilot Study.

Pediatric neurology·2026

Brain Abscess as the Initial Manifestation of Hereditary Hemorrhagic Telangiectasia in a Child.

Pediatric neurology·2026

Caregiver Differentiation Between Dystonia and Spasticity in Cerebral Palsy.

Pediatric neurology·2026

Spine Centers in Northeastern United States: Assessing Similarities and Disparities to Build more Homogeneity Across the Country.

Current pain and headache reports·2026

Persistent kidney dysfunction after leptospirosis-associated acute kidney injury: a case series from coastal Karnataka, India.

International urology and nephrology·2026

Convulsions, Palsy, and the Spanish Inquisition: Neurologic Cases in an Overlooked Historical Archive.

Neurology·2026

Impact of Texas's Electronic Sexual Assault Evidence Kit Tracking System on Emergency Department Utilization for Sexual Assault Care.

American journal of public health·2026

The AO Spine Upper Cervical Injury Score (UCIS): Development of a Consensus-Based Scoring System Based on Perceived Injury Severity Scores.

Global spine journal·2026

Validation of a Small Language Model for DSM-5 Substance Category Classification in Child Welfare Records.

Journal of evidence-based social work (2019)·2026

Related Experiment Videos

SLS or not SLS. Sjögren-Larsson syndrome

Related Concept Videos

D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2.

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

Monoaminergic dysfunction in Sjögren-Larsson syndrome.

Sleep Disordered Breathing in Joubert Syndrome: Disease Spectrum in a Pediatric Cohort.

Patient and Family Perspectives on Point-of-Care Low-Field Brain Magnetic Resonance Imaging for Children in the Emergency Department, Intensive Care Unit, and Hospital Setting.

Training Pathways, Workforce Distribution, and Professional Practice of Child Neurologists in Brazil: A Cross-Sectional Study With Implications for Access to Care.

Insula Injury and State Change Predict Outcome in Cooled Neonatal Hypoxic Ischemic Encephalopathy Patients: A Pilot Study.

Brain Abscess as the Initial Manifestation of Hereditary Hemorrhagic Telangiectasia in a Child.

Caregiver Differentiation Between Dystonia and Spasticity in Cerebral Palsy.

Spine Centers in Northeastern United States: Assessing Similarities and Disparities to Build more Homogeneity Across the Country.

Persistent kidney dysfunction after leptospirosis-associated acute kidney injury: a case series from coastal Karnataka, India.

Convulsions, Palsy, and the Spanish Inquisition: Neurologic Cases in an Overlooked Historical Archive.

Impact of Texas's Electronic Sexual Assault Evidence Kit Tracking System on Emergency Department Utilization for Sexual Assault Care.

The AO Spine Upper Cervical Injury Score (UCIS): Development of a Consensus-Based Scoring System Based on Perceived Injury Severity Scores.

Validation of a Small Language Model for DSM-5 Substance Category Classification in Child Welfare Records.

Related Experiment Videos

SLS or not SLS. Sjögren-Larsson syndrome

Related Concept Videos

Related Articles