Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians
Articles > Review · 2016
Authors: Beyhan OZKAYA, Ebru Erbas Canda, Sema KALKAN UÇAR
JOURNAL OF PEDIATRIC RESEARCH, Journal Indexed in SCI Expanded, International, 2016, vol 3, pp 70-75
DOI: 10.4274/jpr.43650
Summary
Lysosomal lipid storage disease, occurs as a result of enzyme deficiency or defect in the transport of lipid molecules. Hepatosplenomegaly, neuromotor developmental delay, cognitive impairment accompanied dementia, dyslipidemia, liver and lung failure, jaundice, growth failure are the main clinical and laboratory characteristics of this group.