Genotype and phenotype variability in Sjögren‐Larsson syndrome
M Weustenfeld, R Eidelpes, M Schmuth… - Human …, 2019 - Wiley Online Library
Abstract The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder
caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde …
caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde …
Clinical, biochemical, and genetic aspects of Sjögren‐Larsson syndrome
Sjögren‐Larsson syndrome (SLS) is caused by an autosomal recessive mutation in
ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the …
ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the …
Sjögren–Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency
WB Rizzo - Molecular genetics and metabolism, 2007 - Elsevier
Sjögren–Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by
mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an …
mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase (FALDH), an …
Sjögren‐Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)
WB Rizzo, G Carney - Human mutation, 2005 - Wiley Online Library
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by
ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by …
ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by …
Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort
C Sarret, M Rigal, C Vaurs-Barrière, I Dorboz… - Journal of the …, 2012 - Elsevier
Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by
ichthyosis, spastic di-or tetraplegia and mental retardation due a defect of the fatty aldehyde …
ichthyosis, spastic di-or tetraplegia and mental retardation due a defect of the fatty aldehyde …
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
MS Abdel-Hamid, MY Issa, HM Elbendary… - Journal of Human …, 2019 - nature.com
Sjögren–Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by
congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid …
congenital ichthyosis, spastic diplegia and intellectual disability. It is an inborn error of lipid …
Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran
A Kariminejad, M Barzgar, B Bozorgmehr… - European journal of …, 2018 - Elsevier
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by
ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the …
ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the …
Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome
WB Rizzo - Expert opinion on orphan drugs, 2016 - Taylor & Francis
ABSTRACT Introduction: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous
disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive …
disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive …
Large contiguous gene deletions in Sjögren–Larsson syndrome
H Engelstad, G Carney, D S'aulis, J Rise… - Molecular genetics and …, 2011 - Elsevier
Sjögren–Larsson syndrome (SLS) is an autosomal recessive disorder characterized by
ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty …
ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty …
Sjögren‐Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2
G Carney, S Wei, WB Rizzo - Human mutation, 2004 - Wiley Online Library
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by
mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an …
mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an …
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