Zobrazeno 1 - 10
of 1 017
pro vyhledávání: '"Lysosomal acid lipase A"'
Autor:
Ivan Bradić, Nemanja Vujić, Katharina B. Kuentzel, Hansjörg Habisch, Anita Pirchheim, Alena Akhmetshina, John D. Henderson, Tobias Madl, Atul S. Deshmukh, Dagmar Kratky
Publikováno v:
Gastro Hep Advances, Vol 3, Iss 6, Pp 711-723 (2024)
Background and Aims: Recent studies showed that patients suffering from lysosomal acid lipase deficiency (LAL-D) benefit from enzyme replacement therapy; however, liver histopathology improved in some but not all patients. We hypothesized that the pa
Externí odkaz:
https://doaj.org/article/3e7a6a2f5f9348cc9a94f0aba394ad76
Akademický článek
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Publikováno v:
BMC Research Notes, Vol 16, Iss 1, Pp 1-8 (2023)
Abstract Objective Placental extract, which contains various bioactive compounds, has been used as traditional medicine. Many studies have demonstrated additional applications of placental extract and provided a scientific basis for the broad spectru
Externí odkaz:
https://doaj.org/article/33c726d3a492461aab30d27f3c3d1bb2
Autor:
Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 337-354 (2023)
Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester stora
Externí odkaz:
https://doaj.org/article/bbadc6c645734812b65cf6da590af630
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 12, Pp 100474- (2023)
Externí odkaz:
https://doaj.org/article/f3c85e193a8446ce9c6e7103e1382ac2
Publikováno v:
JACC: Case Reports, Vol 24, Iss , Pp 102023- (2023)
Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the
Externí odkaz:
https://doaj.org/article/a82c4c116983477682a15bf4d99de096
Autor:
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 93-100 (2023)
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl
Externí odkaz:
https://doaj.org/article/625562bf626b47c18182937dd6ebe100
Publikováno v:
Adipocyte, Vol 11, Iss 1, Pp 28-33 (2022)
Oxidative tissues such as brown adipose tissue and muscle internalize large amounts of circulating lipids and glucose as energy source. Endothelial cells (ECs) provide a platform for regulated transport and processing of blood-borne nutrients. Next t
Externí odkaz:
https://doaj.org/article/c3b1b677bfdf4ba08bf0289a599bd288
Autor:
Valentina Bianco, Melanie Korbelius, Nemanja Vujic, Alena Akhmetshina, Melina Amor, Dagmar Kolb, Anita Pirchheim, Ivan Bradic, Katharina B. Kuentzel, Martin Buerger, Silvia Schauer, Huyen T.T. Phan, Dominik Bulfon, Gerald Hoefler, Robert Zimmermann, Dagmar Kratky
Publikováno v:
Molecular Metabolism, Vol 73, Iss , Pp 101737- (2023)
Objective: To date, the only enzyme known to be responsible for the hydrolysis of cholesteryl esters and triacylglycerols in the lysosome at acidic pH is lysosomal acid lipase (LAL). Lipid malabsorption in the small intestine (SI), accompanied by mac
Externí odkaz:
https://doaj.org/article/56fe92f78f8e4d238b80e8bd6cd05e8b
Autor:
Indira Jayakumar, Anupama Gude, Murarji Renangi, Soundaram Valliyappan, Venkateswaran Vellaichamy Swaminathan, Satishkumar Meena, Harika Varla, Rumesh Chandar, Ramya Uppuluri, Revathi Raj
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 1, Pp 1-3 (2023)
Introduction: Wolman disease is a rare genetic disorder with an autosomal recessive inheritance. A mutation in the LIPA gene causes lysosomal acid lipase (LAL) deficiency results in lipid storage and adrenal insufficiency. Death in early infancy is d
Externí odkaz:
https://doaj.org/article/6624a6b295be452cb797988f6e6db6e1