Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum (original) (raw)

Sjögren–Larsson syndrome: Molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency

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

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The Molecular Basis of Sjögren-Larsson Syndrome: Mutation Analysis of the Fatty Aldehyde Dehydrogenase Gene

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Phenotypic Variability Among Adult Siblings With Sjögren-Larsson Syndrome

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Sjogren-Larsson Syndrome: A Rare Differential Diagnosis of Cerebral Palsy

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

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

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Sjögren-Larsson syndrome: motor performance and everyday functioning in 17 patients

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Sjogren-Larsson syndrome in Brazil is caused by a common c.1108-1GC splice-site mutation in the ALDH3A2 gene

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A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome

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

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MR Imaging and Proton MR Spectroscopic Studies in Sjögren-Larsson Syndrome: Characterization of the Leukoencephalopathy

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Sjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycle

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The Journal of Pediatrics, 1989

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Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods

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

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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

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

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