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


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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
  • Dokuz Eylül 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.