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Jan 21, 2015 (publication date) through Feb 8, 2025
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World Journal of Gastroenterology
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1007-9327
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
| For: |
Santillán-Hernández Y, Almanza-Miranda E, Xin WW, Goss K, Vera-Loaiza A, Mora MTGDL, Piña-Aguilar RE. Novel |
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| URL: | https://www.wjgnet.com/1007-9327/full/v21/i3/1001.htm |
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I. N. Zakharova, А. N. Goryaynova, I. D. Maikova, N. V. Koroid, L. P. Katasonova, O. I. Elfimova, N. E. Kuzina, E. A. Dikova. Lysosomal lipid storage diseases in children. Modern diagnostic and treatment methods. Medical Council 2016; 1(1): 128 doi: 10.21518/2079-701X-2016-1-128-135
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Pilar Giraldo, Laura López de Frutos, Jorge J Cebolla. Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency. Expert Opinion on Orphan Drugs 2022; 10(1): 11 doi: 10.1080/21678707.2022.2131393
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R. Vázquez-Frias, J.E. García-Ortiz, P.F. Valencia-Mayoral, G.E. Castro-Narro, P.G. Medina-Bravo, Y. Santillán-Hernández, J. Flores-Calderón, R. Mehta, C.A. Arellano-Valdés, L. Carbajal-Rodríguez, J.I. Navarrete-Martínez, M.L. Urbán-Reyes, M.T. Valadez-Reyes, F. Zárate-Mondragón, A. Consuelo- Sánchez. Consenso mexicano sobre el diagnóstico de la deficiencia de lipasa ácida lisosomal. Revista de Gastroenterología de México 2018; 83(1): 51 doi: 10.1016/j.rgmx.2017.08.001
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Guillermo Angel, Andrew T. Hutchinson, Nina K. Jain, Chris D. Forbes, John Reynders. Large‐scale functionalLIPAvariant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. Human Mutation 2019; 40(11): 2007 doi: 10.1002/humu.23837
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Svetlana Mikhailova, Dinara Ivanoshchuk, Olga Timoshchenko, Elena Shakhtshneider. Genes Potentially Associated with Familial Hypercholesterolemia. Biomolecules 2019; 9(12): 807 doi: 10.3390/biom9120807
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Rohit Kohli, Vlad Ratziu, Maria Isabel Fiel, Elisa Waldmann, Don P. Wilson, Manisha Balwani. Initial assessment and ongoing monitoring of lysosomal acid lipase deficiency in children and adults: Consensus recommendations from an international collaborative working group. Molecular Genetics and Metabolism 2020; 129(2): 59 doi: 10.1016/j.ymgme.2019.11.004
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R. Vázquez-Frias, J.E. García-Ortiz, P.F. Valencia-Mayoral, G.E. Castro-Narro, P.G. Medina-Bravo, Y. Santillán-Hernández, J. Flores-Calderón, R. Mehta, C.A. Arellano-Valdés, L. Carbajal-Rodríguez, J.I. Navarrete-Martínez, M.L. Urbán-Reyes, M.T. Valadez-Reyes, F. Zárate-Mondragón, A. Consuelo-Sánchez. Mexican consensus on lysosomal acid lipase deficiency diagnosis. Revista de Gastroenterología de México (English Edition) 2018; 83(1): 51 doi: 10.1016/j.rgmxen.2018.01.001
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Alejandra Consuelo-Sánchez, Rodrigo Vázquez-Frias, Alejandra Reyes-De La Rosa, Carlos P. Acosta-Rodríguez-Bueno, María P. Ortal-Vite, Jorge J. Cebolla. Mutations identified in a cohort of Mexican patients with lysosomal acid lipase deficiency. Annals of Hepatology 2019; 18(4): 646 doi: 10.1016/j.aohep.2018.07.005
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Camila da Rosa Witeck, Anne Calbusch Schmitz, Júlia Meller Dias de Oliveira, André Luís Porporatti, Graziela De Luca Canto, Maria Marlene de Souza Pires. Lysosomal acid lipase deficiency in pediatric patients: a scoping review. Jornal de Pediatria 2022; 98(1): 4 doi: 10.1016/j.jped.2021.03.003
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Katrina J. Besler, Valentin Blanchard, Gordon A. Francis. Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease. Frontiers in Genetics 2022; 13 doi: 10.3389/fgene.2022.1013266
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Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins. Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum. Case Reports in Pediatrics 2018; 2018: 1 doi: 10.1155/2018/4375434
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Gerarda Cappuccio, Taraka R. Donti, Leroy Hubert, Qin Sun, Sarah H. Elsea. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. Journal of Inherited Metabolic Disease 2019; 42(3): 509 doi: 10.1002/jimd.12057
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| 14 |
O. Sh. Oynotkinova, E. L. Nikonov, A. P. Baranov, E. V. Krukov, M. A. Doroshko. Lysosomal acid lipase deficiency - underestimated cause of dislipidemia. what's new?. Dokazatel'naya gastroenterologiya 2018; 7(4): 65 doi: 10.17116/dokgastro2018704165
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