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Pilar Giraldo, Laura López de Frutos & Jorge J Cebolla. (2022) Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency. Expert Opinion on Orphan Drugs 10:1, pages 11-21.
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Articles from other publishers (21)
Barbara K. Burton. (2023) Response to Drs. Strong and Ficicioglu. Journal of Pediatric Gastroenterology & Nutrition 76:6, pages e89-e89.
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Su Han Lum, Milen Minkov, Simon A. Jones, Sheree Hazelaar, Tiarlan Sirait, Jane E. Potter, Polina Stepensky, Frederic Garban, Herbert Pichler, Jerry Stein, Zuhre Kaya, Ansgar Schulz, Karin Mellgren, Cristina Diaz de Heredia, Cecile Pochon, Susana Riesco, Miguel Angel Diaz, Gérard Michel, Caroline Lindemans, Bernd Gruhn, Michael H. Albert, Arjan C. Lankester, Bénédicte Neven & Robert Wynn. (2023) Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party. Bone Marrow Transplantation 58:5, pages 594-596.
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Gilian Guerreiro, Marion Deon & Carmen Regla Vargas. (2023) Evaluation of biochemical profile and oxidative damage to lipids and proteins in patients with lysosomal acid lipase deficiency. Biochemistry and Cell Biology.
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David A. Suarez-Zamora, Maria M. Rojas-Rojas, Felipe Ordoñez-Guerrero, Jacqueline Mugnier-Quijano & Rocio Lopez-Panqueva. (2023) Pediatric patients with lysosomal acid lipase deficiency. Revista Española de Patología 56:2, pages 113-118.
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Ursa Sustar, Urh Groselj, Katarina Trebusak Podkrajsek, Matej Mlinaric, Jernej Kovac, Martin Thaler, Ana Drole Torkar, Ajda Skarlovnik, Tadej Battelino & Tinka Hovnik. (2022) Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program. Frontiers in Genetics 13.
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Ivan Bradić, Katharina B. Kuentzel, Sophie Honeder, Gernot F. Grabner, Nemanja Vujić, Robert Zimmermann, Ruth Birner-Gruenberger & Dagmar Kratky. (2022) Off-target effects of the lysosomal acid lipase inhibitors Lalistat-1 and Lalistat-2 on neutral lipid hydrolases. Molecular Metabolism 61, pages 101510.
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Akash Pandey, Justin Adam de Boer, Irene Melo RN & Karoly Horvath. (2022) A novel approach for the treatment of lysosomal acid lipase deficiency nonresponsive to conventional therapy regimen. Gastroenterology & Hepatology: Open Access 13:2, pages 49-51.
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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. (2022) Lysosomal acid lipase deficiency in pediatric patients: a scoping review. Jornal de Pediatria 98:1, pages 4-14.
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Roshni Vara & Yusof Rahman. 2022. Liver Disease in Adolescence. Liver Disease in Adolescence
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Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay & Anaïs Brassier. (2021) Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up. Orphanet Journal of Rare Diseases 16:1.
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Si-Lan Han, Yu-Cheng Qian, Samwel Mchele Limbu, Jing Wang, Li-Qiao Chen, Mei-Ling Zhang & Zhen-Yu Du. (2021) Lipolysis and lipophagy play individual and interactive roles in regulating triacylglycerol and cholesterol homeostasis and mitochondrial form in zebrafish. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1866:9, pages 158988.
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Abdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, Anais Brassier, Rodolphe Anty, Sarah Snanoudj, Armand Abergel, Marie-Thérèse Abi Warde, Edouard Bardou-Jacquet, Reda Belbouab, Eloi Blanchet, Corinne Borderon, Jean-Pierre Bronowicki, Bertrand Cariou, Claire Carette, Myriam Dabbas, Hélène Dranguet, Victor de Ledinghen, Jean Ferrières, Maeva Guillaume, Michel Krempf, Florence Lacaille, Dominique Larrey, Vincent Leroy, Marietta Musikas, Eric Nguyen-Khac, Denis Ouzan, Jean-Marc Perarnau, Carine Pilon, Vlad Ratzlu, Alice Thebaut, Thierry Thevenot, Isabelle Tragin, Valérie Triolo, Bruno Vergès, Sabrina Vergnaud & Soumeya Bekri. (2021) Large-scale screening of lipase acid deficiency in at risk population. Clinica Chimica Acta 519, pages 64-69.
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Vanessa Stadlbauer-Köllner, Elmar Aigner, Peter Fickert, Markus Peck-Radosavljevic, Christian Datz, Michael Gschwantler, Stephanie Hametner-Schreil, Harald Hofer, Andreas Maieron, Thomas Reiberger, Albert Friedrich Stättermayer, Thomas Stulnig & Heinz Zoller. (2021) Empfehlungen zur Abklärung der Hepatosplenomegalie bei Erwachsenen unter besonderer Berücksichtigung von lysosomalen SpeichererkrankungenRecommendations for Diagnostic Workup of Hepatosplenomegaly in Adults with Special Focus on Lysosomal Storage Diseases. Journal für Gastroenterologische und Hepatologische Erkrankungen 19:2, pages 44-53.
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Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado & María Concepción García Jiménez. (2021) Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática. Anales de Pediatría 94:1, pages 50-51.
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Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado & María Concepción García Jiménez. (2021) Lysosomal acid lipase deficiency: A rarely recognised cause of dyslipidaemia and liver dysfunction. Anales de Pediatría (English Edition) 94:1, pages 50-51.
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Simone Carotti, Katia Aquilano, Francesco Valentini, Sergio Ruggiero, Francesca Alletto, Sergio Morini, Antonio Picardi, Raffaele Antonelli-Incalzi, Daniele Lettieri-Barbato & Umberto Vespasiani-Gentilucci. (2020) An overview of deregulated lipid metabolism in nonalcoholic fatty liver disease with special focus on lysosomal acid lipase. American Journal of Physiology-Gastrointestinal and Liver Physiology 319:4, pages G469-G480.
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Juan Pedro-Botet, Juan F. Ascaso, Mariano Blasco, Ángel Brea, Ángel Díaz, Antonio Hernández-Mijares, Xavier Pintó & Jesús Millán. (2020) Triglicéridos, colesterol HDL y dislipidemia aterogénica en la guía europea para el control de las dislipidemias 2019. Clínica e Investigación en Arteriosclerosis 32:5, pages 209-218.
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Juan Pedro-Botet, Juan F. Ascaso, Mariano Blasco, Ángel Brea, Ángel Díaz, Antonio Hernández-Mijares, Xavier Pintó & Jesús Millán. (2020) Triglycerides, HDL cholesterol and atherogenic dyslipidaemia in the 2019 European guidelines for the management of dyslipidaemias. Clínica e Investigación en Arteriosclerosis (English Edition) 32:5, pages 209-218.
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Michael M. Page, Damon A. Bell & Gerald F. Watts. (2019) Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?. Clinical Genetics 97:4, pages 543-555.
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