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Article Abstract
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828415 | PMC |
| http://dx.doi.org/10.1155/2018/4375434 | DOI Listing |
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