Results 121 to 130 of about 2,600,769 (206)

Cholesteryl ester storage disease in a young child presenting as isolated hepatomegaly treated with simvastatin

The Turkish Journal of Pediatrics, 2006
Cholesteryl ester storage disease (CESD) is an autosomal recessive disorder resulting from lysosomal acid lipase deficiency and is usually characterized by hepatomegaly and hyperlipidemia.
Buket Dalgiç, Sinan Sari, Mehmet Gündüz, Fatih Ezgü, Leyla Tümer, Alev Hasanoğlu, Gülen Akyol   +6 more
doaj  

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

, 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 ...
Yaman, Aytac, Gumus, Meltem, Usta, Yusuf, Kansu, Aydan, Dogan, Yasar, Sahin, Gulseren, Urganci, Nafiye, Baran, Masallah, Hosnut, Ferda Ozbay, Durmaz Ugurcan, Ozlem, Onal, Zerrin, Islek, Ali, Gokce, Selim, Balcı Sezer, Oya, Balci Sezer, Oya, Eksi Bozbulut, Neslihan, Kırsaçlıoğlu, Ceyda Tuna, Dalgıç, Büket, Kuloglu, Zarife, Ozkan, Tanju, Eren, Esra, Agiı, Mehmet, ARSLAN, DURAN, Tosun, Mahya Sultan, Gulsan, Meltem, Eren, Makbule, Dalgic, Buket, Ozturk, Yesim, Gerenli, Nelgin, Celtik, Coskun, Çakır, Murat, Tokgoz, Yavuz, Hızlı, Samil, Gulerman, Fulya, Kuyum, Pinar, Guven, Burcu, Cakir, Murat, Bozbulut, Eksi, Ecevit, Cigdem Omur, KALAYCI, AYHAN GAZİ, Kasırga, Erhun, Kuyum, Pınar, Comba, Atakan, Agin, Mehmet, Urgancı, Nafiye, Natl Lal-D Study Grp, Hizli, Samil, Selbuz, Suna, Emiroglu, Halil Haldun, Usta, Ayse Merve, Kasirga, Erhun, Dogan, Guzide, Cantez, Serdar, Balamtekin, Necati, Aydogan, Aysen Uncuoglu, Demiroren, Kaan, Ozgur, Taner, Ozcay, Figen, Kocamaz, Halil, Kalayci, Ayhan G., Yuksekkaya, Hasan, Isik, Ishak Abdurrahman, Kirsaclioglu, Ceyda Tuna, Erdemir, Gulin, Kalaycı, Ayhan G., Akcam, Mustafa, Tumgor, Gokhan, Karacabey, Neslihan, Ustundag, Gonca Handan, Canan, Oguz, Deveci, Ugur   +70 more
core   +1 more source

Lysosomal Acid Lipase Measurement [PDF]

, 2020
openaire   +1 more source

Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders. [PDF]

J Lipid Res, 2023
Westerterp M, Li F, Zhang H.
europepmc   +1 more source

Introduction of method for measuring the activity of lysosomal acid lipase in dried blood filter paper samples

, 2015
Wolmanova bolest i bolest nakupljanja kolesterolskih estera su autosomno recesivne nasljedne bolesti koje karakterizira manjak enzima lizosomske kisele lipaze.
Ivanković, Vedrana
core   +1 more source

Hepatosteatosis from Lysosomal Acid Lipase Deficiency [PDF]

Journal of Gastrointestinal Surgery, 2019
Zandanell, Stephan, Primavesi, Florian, Aigner, Elmar   +2 more
openaire   +2 more sources

Lysosomal acid lipase deficiency

Molecular Genetics and Metabolism
Natalya V. Zhurkova, Nato D. Vashakmadze, Tatyana A. Bokova, Anastasia I. Rykunova, Andrey N. Surkov, Olga S. Gundobina, Yulia Y. Kotalevskaya, Leyla S. Namazova-Baranova   +7 more
openaire   +2 more sources

Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase. [PDF]

J Lipid Res, 2023
Bradić I, Liesinger L, Kuentzel KB, Vujić N, Trauner M, Birner-Gruenberger R, Kratky D.   +6 more
europepmc   +1 more source

Burden of Lysosomal Acid Lipase Deficiency [PDF]

Value in Health, 2017
KM Johnston, BM Donato, LC Stewart, I Tomazos   +3 more
openaire   +1 more source

Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer. [PDF]

Commun Med (Lond)
Laurent M, Harb R, Jenny C, Oustelandt J, Jimenez S, Cosette J, Landini F, Ferrante A, Corre G, Vujic N, Piccoli C, Brassier A, Van Wittenberghe L, Ronzitti G, Kratky D, Pacelli C, Amendola M.   +16 more
europepmc   +2 more sources