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

KULOĞLU Z., Kansu A., Selbuz S., KALAYCI A. G., Sahin G., Kirsaclioglu C. T., ...More

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, vol.68, no.3, pp.371-376, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 68 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.1097/mpg.0000000000002224
  • Journal Name: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.371-376
  • Keywords: children, liver, lysosomal acid lipase deficiency, ESTER STORAGE DISEASE, WOLMAN
  • Gazi University Affiliated: Yes

Abstract

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.