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.
http://ift.tt/2DTU9WD
Κυριακή 21 Ιανουαρίου 2018
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
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