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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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Ralf Weiskirchen. (2017) Fast progression of liver damage in lysosomal acid lipase deficiency. Current Medical Research and Opinion 33:11, pages 2081-2083.
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Articles from other publishers (10)
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Barbara K. Burton. (2023) Response to Drs. Strong and Ficicioglu. Journal of Pediatric Gastroenterology & Nutrition 76:6, pages e89-e89.
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Hirokazu Kanegane, Atsuko Noguchi, Yuki Yamada & Takahiro Yasumi. (2023) Rare diseases presenting with hemophagocytic lymphohistiocytosis. Pediatrics International 65:1.
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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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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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Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann & Saco J. de Visser. (2020) Registries for orphan drugs: generating evidence or marketing tools?. Orphanet Journal of Rare Diseases 15:1.
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Elias Badal Rashu, Anders Ellekær Junker, Karen Vagner Danielsen, Emilie Dahl, Ole Hamberg, Line Borgwardt, Vibeke Brix Christensen, Nicolai J Wewer Albrechtsen & Lise L Gluud. (2020) Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature. World Journal of Clinical Cases 8:9, pages 1642-1650.
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Hernando Lyons, Eleftherios Vouyoukas, Martha Higgins & James J. Maciejko. (2020) Clinical and Histologic Liver Improvement in Siblings With Lysosomal Acid Lipase Deficiency After Enzyme Replacement. Journal of Pediatric Gastroenterology & Nutrition 70:5, pages 635-639.
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Fabio Nascimbeni, Carlo Dionisi Vici, Umberto Vespasiani Gentilucci, Francesco Angelico, Valerio Nobili, Salvatore Petta & Luca Valenti. (2020) AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement. Digestive and Liver Disease 52:4, pages 359-367.
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Lorenzo Arnaboldi, Alice Ossoli, Eleonora Giorgio, Livia Pisciotta, Tiziano Lucchi, Liliana Grigore, Chiara Pavanello, Agnese Granata, Andrea Pasta, Beatrice Arosio, Domenico Azzolino, Andrea Baragetti, Samuela Castelnuovo, Alberto Corsini, Alberico L. Catapano, Laura Calabresi & Monica Gomaraschi. (2020) LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters. Atherosclerosis 297, pages 8-15.
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