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

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dc.contributor.authorCuriati, Marco Antonio [UNIFESP]
dc.contributor.authorKyosen, Sandra Obikawa[UNIFESP]
dc.contributor.authorPereira, Vanessa Goncalves [UNIFESP]
dc.contributor.authorda Silva Patricio, Francy Reis [UNIFESP]
dc.contributor.authorMartins, Ana Maria [UNIFESP]
dc.coverageLondon
dc.date.accessioned2020-07-02T18:52:05Z
dc.date.available2020-07-02T18:52:05Z
dc.date.issued2018
dc.description.abstractLysosomal 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.en
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Dept Pediat, Reference Ctr Inborn Errors Metab CREIM, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Lab Inborn Errors Metab, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo UNIFESP, Dept Pathol, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipPeloton Advantage, LLC - Alexion Pharmaceuticals, Inc.
dc.format.extent-
dc.identifierhttp://dx.doi.org/10.1155/2018/4375434
dc.identifier.citationCase Reports In Pediatrics. London, v. , p. -, 2018.
dc.identifier.doi10.1155/2018/4375434
dc.identifier.fileWOS000424634200001.pdf
dc.identifier.issn2090-6803
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/53873
dc.identifier.wosWOS:000424634200001
dc.language.isoeng
dc.publisherHindawi Ltd
dc.relation.ispartofCase Reports In Pediatrics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleLysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrumen
dc.typeinfo:eu-repo/semantics/article
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