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

Kuloğlu, ZARİFE; Kansu Tanca, AYDAN; Selbuz, Suna; Kalaycı, Ayhan; Sahin, Gulseren; Tuna Kırsaçlıoğlu, CEYDA; Demiroren, Kaan; Dalgıç, Buket; Kasirga, Erhun; Onal, Zerrin; İşlek, Ali; Eren, Esra; Hosnut, Ferda; Urganci, Nafiye; Yaman, Aytac; Ozkan, Tanju; Bozbulut, Eksi; Dogan, Guzide; Eksi Bozbulut, Neslihan; Dogan, Guzide; Durmaz Ugurcan, Ozlem; Usta, Ayse; Arslan, Duran; Akçam, Mustafa; Isik, Ishak; Ecevit, Cigdem; Usta, Yusuf; Özgür, Taner; Ozcay, Figen; Balamtekin, Necati; Ozturk, Yesim; Balamtekin, Necati; Öztürk, Yeşim; Cantez, Serdar; Gulerman, Fulya; Üstündağ, Gonca; Emiroglu, Halil; Karacabey, Neslihan; Comba, Atakan; Erdemir, Gulin; Aydogan, Aysen; Gokce, Selim; Kuyum, Pinar; Gülşan, Meltem; Tosun, Mahya; Tokgoz, Yavuz; Guven, Burcu; Yuksekkaya, Hasan; Tümgör, Gökhan; Eren, Makbule; Baran, Masallah; Gumus, Meltem; Canan, Oguz; Kocamaz, Halil; Gerenli, Nelgin; Çakır, Murat; Ağın, Mehmet; Hizli, Samil; Doğan, Yaşar; Celtik, Coskun; Deveci, Ugur; Balci Sezer, Oya

doi:10.1097/mpg.0000000000002224

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

Kuloğlu Z., Kansu Tanca A., Selbuz S., Kalaycı A. G., Sahin G., Tuna Kırsaçlıoğlu C., ...More

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

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
Open Archive Collection: AVESIS Open Access Collection
Ankara 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.