Page 87 - Educacional Ponenecias Congreso SEHH-STH 2020

❯ Bibliografía
1. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman’s disease and cho- lesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670-9.
2. Taurisano R, Maiorana A, De Benedetti F, Dionisi-Vici C, Boldrini R, Deodato F. Wolman disease associated with hemophagocytic lymphohistiocytosis: at- tempts for an explanation. Eur J Pediatr. 2014;173(10):1391-4.
3. Porto AF. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and cholesteryl ester storage diseases.Pediatr Endocrinol Rev.2014 Sep 1;12:125-32.
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phagocytic lymphohistiocytosis. Pediatr Hematol Oncol. 2014;31(6):576-8.
5. Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lyso- somal acid lipase deficiency: Wolman’s disease. BMJ Case Rep. 2014;2014:bcr2013202652.
6. Elsayed S, Elsobky E, Tantawy A, Ragab E, Gil M, Lambert N, et al. Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations Wolman disease presenting as FHL. Egypt J Med Hum Genet. 2016;17(3):277-80.
7. Agencia Española de Medicamentos y Productos Sanitarios. Informe de Posicionamiento Terapéutico de sebelipasa alfa (Kanuma®) en pacientes con déficit de lipasa ácida lisosomal. AEMPS; 2018. pp. 1-7. Disponible en: https://www.aemps.gob.es/medicamentosUsoHumano/informesPublicos/ docs/IPT-sebelipasa-alfa-Kanuma-DLAL.pdf.
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