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Article

Familial Infantile Liver Failure Syndrome 1: Novel LARS1 Gene Mutation

28 Jun 2022

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35763216
DOI: 10.1007/s12098-022-04249-2

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Related research

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Familial Infantile Liver Failure Syndrome 1: Novel LARS1 Gene MutationPMID 35763216Read ↗

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterizationSemantic proximity Read ↗

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].Semantic proximity Read ↗

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.Semantic proximity Read ↗

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.Semantic proximity Read ↗

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS.Semantic proximity Read ↗

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.Semantic proximity Read ↗

Case Report: The first probable Hong Kong Chinese case of LPIN1-related acute recurrent rhabdomyolysis in a boy with two novel variantsSemantic proximity Read ↗

Identification of a mutation in LARS as a novel cause of infantile hepatopathy.Semantic proximity Read ↗

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosisSemantic proximity Read ↗

[A case of interstitial lung and liver disease caused by MARS1 gene mutation].Semantic proximity Read ↗

Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagySemantic proximity Read ↗

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.Semantic proximity Read ↗

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