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Article

New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family.

Acta paediatrica (Oslo, Norway : 1992) - 1 May 2003

Brites F, Henriksen F, Fernández K, Brusgaard K, Castro G, Wikinski R

Abstract excerpt

UNLABELLED: The case is reported of a 4-y-old boy with chylomicronaemia syndrome, under treatment with a low-fat diet and medium-chain triglycerides. The clinical and biochemical characteristics of the patient and 11 members of his family were studied. Lipoprotein profile, lipoprotein lipase (LPL...

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Source

Identifiers

PMID: 12839295
DOI: 10.1111/j.1651-2227.2003.tb02517.x

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12839295-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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