Este algoritmo foi produzido e validado pela Dra. Patrícia Lipari, Pediatra do Centro de Referência de Doenças Hereditárias do Metabolismo do Centro Hospitalar e Universitário de Santa Maria.

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019 Feb;126(2):98-105.

Pinto C, Sousa D, Ghilas V, Dardis A, Scarpa M, Macedo MF. Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective. Int J Mol Sci. 2021 Nov 28;22(23).

Cox GF, Clarke LA, Giugliani R, McGovern MM. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. JIMD Rep. 2018;41:119-129.

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017 Sep;19(9):967-974.

Pan YW, Tsai MC, Yang CY, et al. Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan. Mol Genet Metab Rep. 2023;34:100957.

Diaz GA, Giugliani R, Guffon N, et al. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results [published correction appears in Orphanet J Rare Dis. 2023 Mar 14;18(1):55]. Orphanet J Rare Dis. 2022;17(1):437.

Patterson, MC (2022, December 21). Overview of Niemann-Pick disease. In D.R. Nordli, Jr. (Ed.), UpToDate. Retrieved [10-04-2023], from https://www.uptodate.com/contents/overview-of-niemann-pick-disease.

Geberhiwot T, Wasserstein M, Wanninayake S, et al. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B). Orphanet J Rare Dis. 2023;18(1):85. 

MAT-PT-2300688-1.0 - Outubro de 2023