Article

Detection of Lysosomal Acid Lipase Deficiency in Tertiary Referral Centres

2022-02-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Lysosomal acid lipase deficiency (LALD) is a rare autosomal recessive metabolic disorder. Mutations in the <italic>LIPA</italic> gene that encodes LAL result in disrupted triglyceride metabolism. Presentations and severity of the disorder are diverse and are often non-specific. Characterisations of LALD include dyslipidaemia and abnormal liver function which can o...

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Literature Corpus work: d4b32ef9-d890-597b-9e8e-3eaa2da72f25
DOI: 10.21203/rs.3.rs-1287115/v1

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