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

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

Author Curiati, Marco Antonio Autor UNIFESP Google Scholar
Autor UNIFESP Google Scholar
Pereira, Vanessa Goncalves Autor UNIFESP Google Scholar
da Silva Patricio, Francy Reis Autor UNIFESP Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
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.
xmlui.dri2xhtml.METS-1.0.item-coverage London
Language English
Sponsor Peloton Advantage, LLC - Alexion Pharmaceuticals, Inc.
Date 2018
Published in Case Reports In Pediatrics. London, v. , p. -, 2018.
ISSN 2090-6803 (Sherpa/Romeo, impact factor)
Publisher Hindawi Ltd
Extent -
Origin http://dx.doi.org/10.1155/2018/4375434
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000424634200001
URI https://repositorio.unifesp.br/handle/11600/53873

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