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Article

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

Journal of inherited metabolic disease - 1 Nov 2015

Casey Jillian P, Slattery Suzanne, Cotter Melanie, Monavari A A, Knerr Ina, Hughes Joanne, Treacy Eileen P, Devaney Deirdre, McDermott Michael, Laffan Eoghan, Wong Derek, Lynch Sally Ann, Bourke Billy, Crushell Ellen

Abstract excerpt

BACKGROUND: Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi origin, representing the largest ILFS1 cohort to date. Our study aims to define the ILFS1 clinical phenotype to help guide diagnosis and patient management. METHODS: We...

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Source

Identifiers

PMID: 25917789
DOI: 10.1007/s10545-015-9849-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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