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, sa.3, ss.371-376, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 68 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1097/mpg.0000000000002224
  • Dergi Adı: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.371-376
  • Anahtar Kelimeler: children, liver, lysosomal acid lipase deficiency, ESTER STORAGE DISEASE, WOLMAN
  • Atatürk Üniversitesi Adresli: Evet

Özet

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.