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

KULOĞLU, ZARİFE; Kansu, Aydan; Selbuz, Suna; KALAYCI, AYHAN; Sahin, Gulseren; Kirsaclioglu, Ceyda; Demiroren, Kaan; DALGIÇ, 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, YEŞİM; 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, HALİL; Gerenli, Nelgin; ÇAKIR, MURAT; AĞIN, 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 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, Scopus)

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
Bursa Uludağ 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.