Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, and prognosis of LARS1 disease remain largely elusive.
Three new instances of ILFS1 with confirmed variants in LARS1,...
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Full title
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1
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TN_cdi_doaj_primary_oai_doaj_org_article_76ec9ef960014e0bae8c2132648f0112
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_76ec9ef960014e0bae8c2132648f0112
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03229-3
