Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

Laura G Draijer,Annet M Bosch,Albert Wiegman,Barbara Sjouke,Marc A Benninga,Bart G P Koot

Atherosclerosis（2018）

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摘要

•1.8% children with high LDL-C complied with 3 or more LAL-D screening criteria.•In all children but one (with true LAL-Deficiency) LAL-D could be excluded.•Retrospective data mining is unlikely to yield a significant number of LAL-D cases.•The screening algorithm adjusted for children seems useful and accurate.

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关键词

Lysosomal acid lipase deficiency,LAL-D,Wolman disease,Cholesteryl ester storage disease,Children,Screening,Dyslipidemia

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