Fol. Biol. 2014, 60, 235-243

https://doi.org/10.14712/fb2014060050235

Lipoprotein Lipase Deficiency: Clinical, Biochemical and Molecular Characteristics in Three Patients with Novel Mutations in the LPL Gene

H. Kolářová1, M. Tesařová1, Š. Švecová1, V. Stránecký2, A. Přistoupilová2, T. Zima3, J. Uhrová3, S. Y. Volgina4, J. Zeman1, Tomáš Honzík1

1Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
2Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
3Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
4Kazan State Medical University, Kazan, Russia

Received February 2014
Accepted March 2014

Crossref Cited-by Linking

  • Konaklieva Monika I., Plotkin Balbina J.: Targeting host-specific metabolic pathways\u2014opportunities and challenges for anti-infective therapy. Front. Mol. Biosci. 2024, 11. <https://doi.org/10.3389/fmolb.2024.1338567>
  • Honzík Tomá\u0161, Zeman Ji\u0159í: Inherited disorders of lipid metabolism (lipoproteins, fatty acids, cholesterol and sphingolipids). Ces-slov Pediat 2024, 79, 271. <https://doi.org/10.55095/CSPediatrie2024/048>
  • Wu Yun Qin, Hu Yue Yuan, Li Gui Nan: Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases. BMC Pediatr 2021, 21. <https://doi.org/10.1186/s12887-021-02875-x>
  • Li Haisen, Sun Shengyi: Protein Aggregation in the ER: Calm behind the Storm. Cells 2021, 10, 3337. <https://doi.org/10.3390/cells10123337>
  • Blom Dirk J., O'Dea Louis, Digenio Andres, Alexander Veronica J., Karwatowska-Prokopczuk Ewa, Williams Karren R., Hemphill Linda, Muñiz-Grijalvo Ovidio, Santos Raul D., Baum Seth, Witztum Joseph L.: Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study. Journal of Clinical Lipidology 2018, 12, 1234. <https://doi.org/10.1016/j.jacl.2018.05.013>
  • Paththinige CS, Sirisena ND, Dissanayake VHW: Genetic determinants of inherited susceptibility to hypercholesterolemia \u2013 a comprehensive literature review. Lipids Health Dis 2017, 16. <https://doi.org/10.1186/s12944-017-0488-4>
  • Morel Sophia, Leahy Jade, Fournier Maryse, Lamarche Benoit, Garofalo Carole, Grimard Guy, Poulain Floriane, Delvin Edgard, Laverdière Caroline, Krajinovic Maja, Drouin Simon, Sinnett Daniel, Marcil Valérie, Levy Emile: Lipid and lipoprotein abnormalities in acute lymphoblastic leukemia survivors. Journal of Lipid Research 2017, 58, 982. <https://doi.org/10.1194/jlr.M072207>
Crossref Cited-by Linking logo