The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

Kuloglu Z., Kansu A., Selbuz S., Kalayci A. G. , Sahin G., Kirsaclioglu C. T. , ...Daha Fazla

Journal of pediatric gastroenterology and nutrition, cilt.68, ss.371-376, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 68 Konu: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1097/mpg.0000000000002224
  • Dergi Adı: Journal of pediatric gastroenterology and nutrition
  • Sayfa Sayıları: ss.371-376


Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study.