Results 111 to 120 of about 2,984,931 (176)

Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots. [PDF]

Mol Genet Metab Rep, 2022
Hong X, Chen Y, Barr M, Gelb MH.
europepmc   +1 more source

Endoscopic Findings in Lysosomal Acid Lipase Deficiency

Journal of Pediatric Gastroenterology and Nutrition, 2018
Sandra Obikawa, Kyosen, Stephan, Geocze, Marcelo Hideki, Yamamoto, Ana Maria, Martins   +3 more
openaire   +3 more sources

Therapeutic efficacy of rscAAVrh74.miniCMV.LIPA gene therapy in a mouse model of lysosomal acid lipase deficiency. [PDF]

Mol Ther Methods Clin Dev, 2022
Lam P, Ashbrook A, Zygmunt DA, Yan C, Du H, Martin PT.   +5 more
europepmc   +1 more source

15-Year progression to liver cancer in the lack of treatment for lysosomal acid lipase deficiency: A case report. [PDF]

Medicine (Baltimore), 2022
Cunha-Silva M, Cunha-Silva M, de França EVC, Veiga CT, Greca RD, de Moraes PBS, de Campos Mazo DF, de Ataíde EC, Perales SR, Monici LT, Sevá-Pereira T.   +10 more
europepmc   +1 more source

Lessons Learned From the Long-Term Use of Enzyme Replacement Therapy in the Treatment of Lysosomal Acid Lipase Deficiency. [PDF]

J Pediatr Gastroenterol Nutr, 2022
Strong A, Ficicioglu C.
europepmc   +1 more source

The Frequency of Lysosomal Acid Lipase Deficiency in Children With

, 2019
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.
Kuloglu, Z, Kansu, A, Selbuz, S, Kalayci, AG, Sahin, G, Kirsaclioglu, CT, Demiroren, K, Dalgic, B, Kasirga, E, Onal, Z, Islek, A, Eren, E, Hosnut, FO, Urganci, N, Yaman, A, Ozkan, T, Bozbulut, E, Dogan, G, Eksi Bozbulut, N, Durmaz Ugurcan, O, Usta, AM, Arslan, D, Akcam, M, Isik, IA, Ecevit, CO, Usta, Y, Ozgur, T, Ozcay, F, Balamtekin, N, Ozturk, Y, Cantez, S, Gulerman, F, Ustundag, GH, Emiroglu, HH, Karacabey, N, Comba, A, Erdemir, G, Aydogan, AU, Gokce, S, Kuyum, P, Gulsan, M, Tosun, MS, Tokgoz, Y, Guven, B, Yuksekkaya, H, Tumgor, G, Eren, M, Baran, M, Gumus, M, Canan, O, Kocamaz, H, Gerenli, N, Cakir, M, Agin, M, Hizli, S, Dogan, Y, Celtik, C, Deveci, U, Balci Sezer, O   +58 more
openaire  

Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease. [PDF]

Front Genet, 2022
Besler KJ, Blanchard V, Francis GA.
europepmc   +1 more source

Living-Donor Liver Transplantation for Late-Onset Lysosomal Acid Lipase Deficiency. [PDF]

J Clin Exp Hepatol, 2022
Ramakrishna SH, Kasala MB, Perumal K, Malleeswaran S, Patcha RV, Varghese J.   +5 more
europepmc   +1 more source

"Why them, why me, why us?" The experiences of parents of children with lysosomal acid lipase deficiency: an interpretative phenomenological analysis study. [PDF]

Orphanet J Rare Dis, 2022
Hassall S, Smith DM, Rust S, Jones SA, Wittkowski A.   +4 more
europepmc   +1 more source

Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five. [PDF]

Can Liver J, 2022
Cossette A, Castilloux J, Bouffard C, Laflamme J, Faure C, Benlamlih S, Abel F, Beecroft M, Francis M, Drouin R.   +9 more
europepmc   +1 more source