Monday, April 15, 2019

Journals on Medical Casereports

Abstract

Background While a total #LysosomalAcidLipase activity deficiency determines #Wolman Disease, in partial deficiency there’s a residual enzyme activity. Onset and clinical features of partial LAL-d are very variable. Secondary LAL-d has been found in patients with non #alcoholicfatty liver disease obesity related. The aim of this study was to evaluate Lysosomal Acid Lipase activity (LAL-A) deficiency determined by dried blood spotting (DBS) in pediatric patients with known and unknown liver disease in order to clarify the role of this test in pediatric clinical practice. Relationship between LAL-A and liver enzymes, #dyslipidemia and other parameters of metabolic syndrome was investigated.

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