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

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Kuloglu 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


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.