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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.


ABSTRACT: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

SUBMITTER: Curiati MA 

PROVIDER: S-EPMC5828415 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.

Curiati Marco Antonio MA   Kyosen Sandra Obikawa SO   Pereira Vanessa Gonçalves VG   Patrício Francy Reis da Silva FRDS   Martins Ana Maria AM  

Case reports in pediatrics 20180121


Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the <i>LIPA</i> gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease. ...[more]

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