Lysosomal Lipid Storage Disease from the Perspective of General Pediatricians
Makaleler > Derleme · 2016
Yazarlar: Beyhan OZKAYA, Ebru Erbas Canda, Sema KALKAN UÇAR
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 3, ss 70-75
DOI: 10.4274/jpr.43650
Özet
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.