Multisystem manifestations of Sjögren-Larsson syndrome in early childhood and its dental implications.

General Anesthesia for a Child With Sjögren-Larsson Syndrome.

Dupilumab Reduces Pruritus in Twins With Sjögren-Larsson Syndrome.

Ciliopathy: Sjögren-Larsson Syndrome.

Biosynthesis of fatty aldehydes and alcohols in the eye and their role in meibogenesis.

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Coexistence of Ichthyosis, Yellowish Keratoderma, and Neurologic Manifestations: Think About Sjogren-Larsson Syndrome.

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.

Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.

End-stage crystalline maculopathy with retinal atrophy in Sjögren-Larsson syndrome: a case report and review of the literature.

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay.

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

Sjögren-Larsson syndrome caused by novel mutations in ALDH3A2 gene.

Ceramide profiling of stratum corneum in Sjögren-Larsson syndrome.

Small touches to big walks -the impact of rehabilitation on Sjögren-Larsson syndrome: A case report.

Beyond retina in Sjogren-Larsson syndrome.

Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.

Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.

Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome.

Sjögren-Larsson syndrome in Spain: Description of three new cases.

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.

Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.

Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity.

Aldh1l2 knockout mouse metabolomics links the loss of the mitochondrial folate enzyme to deregulation of a lipid metabolism observed in rare human disorder.

Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.

Sjogren-Larsson Syndrome: A case series of five members from an extended family with a novel mutation.

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome.

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling.

Sjögren-Larsson syndrome: The mild end of the phenotypic spectrum.

Comprehensive Molecular Profiles of Functionally Effective MSC-Derived Extracellular Vesicles in Immunomodulation.

Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.

Sjogren-Larsson Syndrome: Mechanisms and Management.

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.

Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.

Sjogren-Larsson syndrome associated hypermelanosis.

Sjögren-Larsson syndrome: a complex metabolic disease with a distinctive ocular phenotype.

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

[Sjögren-Larsson syndrome: Pediatric case report].

[A new mutation in the ALDH3A2 gene in a boy with Sjogren-Larsson syndrome].

Genotype and phenotype variability in Sjögren-Larsson syndrome.

Sjogren-Larsson Syndrome: A Rare Case Report.

Late-Stage Sjögren-Larsson Syndrome Maculopathy Imaged With OCT Angiography.

Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report.

Neural symptoms in a gene knockout mouse model of Sjögren-Larsson syndrome are associated with a decrease in 2-hydroxygalactosylceramide.

Neuro-ichthyotic Syndromes: A Case Series.

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Clinical and molecular characterization and response to acitretin in three families with Sjögren-Larsson syndrome.

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome.

Sjögren-Larsson syndrome: definitive diagnosis on magnetic resonance spectroscopy.

Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Atypical Presentation of Sjögren-Larsson Syndrome.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome.

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

The sphingosine 1-phosphate breakdown product, (2E)-hexadecenal, forms protein adducts and glutathione conjugates in vitro.

Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome.

Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome.

Expanding the Genotype of Sjögren-Larsson Syndrome: A New Case Due to Two Novel Mutations.

Lack of Long-Term Neurologic Efficacy of Zileuton in Sjögren-Larsson's Syndrome.

OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME.

Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome.

PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.

[Anesthesia for an Eleven Year Old Girl with Sjögren-Larsson Syndrome].

Child Neurology: Sjögren-Larsson syndrome.

Unusual presentation Of Sjögren-associated neuropathy with plasma cell-rich infiltrate.

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.

Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome.

A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma.

Sjögren-Larsson Syndrome: A Neuro-Ichthyotic Disorder With Unique Magnetic Resonance Features.

Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.

Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier Recovery.

Inherited ichthyosis: Syndromic forms.

Ocular manifestations of genetic skin disorders.

SAXS fingerprints of aldehyde dehydrogenase oligomers.

A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent.

Phytol in a pharma-medico-stance.

Changes in the Submandibular Salivary Gland Epithelial Cell Subpopulations During Progression of Sjögren's Syndrome-Like Disease in the NOD/ShiLtJ Mouse Model.

Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.

Case of Sjögren-Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis.

Segmentation of Retinal Layers in Sjögren-Larsson Syndrome.

Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.