These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B). Opoka L; Wyrostkiewicz D; Radwan-Rohrenschef P; Roży A; Tylki-Szymańska A; Tomkowski W; Szturmowicz M Am J Case Rep; 2020 Aug; 21():e923394. PubMed ID: 32759889 [TBL] [Abstract][Full Text] [Related]
3. Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency. Raebel EM; Wiseman S; Donnelly C; Mathieson T; Pountney J; Crowe J; Hopkin J Orphanet J Rare Dis; 2024 Feb; 19(1):36. PubMed ID: 38303068 [TBL] [Abstract][Full Text] [Related]
4. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review. Tirelli C; Rondinone O; Italia M; Mira S; Belmonte LA; De Grassi M; Guido G; Maggioni S; Mondoni M; Miozzo MR; Centanni S Biomolecules; 2024 Feb; 14(2):. PubMed ID: 38397448 [TBL] [Abstract][Full Text] [Related]
5. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation. McGovern MM; Wasserstein MP; Bembi B; Giugliani R; Mengel KE; Vanier MT; Zhang Q; Peterschmitt MJ Orphanet J Rare Dis; 2021 May; 16(1):212. PubMed ID: 33971920 [TBL] [Abstract][Full Text] [Related]
6. Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults. Lachmann RH; Diaz GA; Wasserstein MP; Armstrong NM; Yarramaneni A; Kim Y; Kumar M Orphanet J Rare Dis; 2023 Apr; 18(1):94. PubMed ID: 37098529 [TBL] [Abstract][Full Text] [Related]
7. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial. Wasserstein MP; Lachmann R; Hollak C; Barbato A; Gallagher RC; Giugliani R; Guelbert NB; Hennermann JB; Ikezoe T; Lidove O; Mabe P; Mengel E; Scarpa M; Senates E; Tchan M; Villarrubia J; Thurberg BL; Yarramaneni A; Armstrong NM; Kim Y; Kumar M Orphanet J Rare Dis; 2023 Dec; 18(1):378. PubMed ID: 38042851 [TBL] [Abstract][Full Text] [Related]
8. Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis. Pulikottil-Jacob R; Ganz ML; Fournier M; Petruski-Ivleva N Adv Ther; 2023 May; 40(5):2234-2248. PubMed ID: 36897522 [TBL] [Abstract][Full Text] [Related]
9. Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency. Di Rocco M; Vici CD; Burlina A; Venturelli F; Fiumara A; Fecarotta S; Donati MA; Spada M; Concolino D; Pession A Orphanet J Rare Dis; 2023 Jul; 18(1):197. PubMed ID: 37480063 [TBL] [Abstract][Full Text] [Related]
10. Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use. Syed YY Clin Drug Investig; 2023 May; 43(5):369-377. PubMed ID: 37133675 [TBL] [Abstract][Full Text] [Related]
11. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review. Jezela-Stanek A; Chorostowska-Wynimko J; Tylki-Szymańska A Clin Respir J; 2020 May; 14(5):422-429. PubMed ID: 31912638 [TBL] [Abstract][Full Text] [Related]
12. Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions. Yañez MJ; Marín T; Balboa E; Klein AD; Alvarez AR; Zanlungo S Biochim Biophys Acta Mol Basis Dis; 2020 Oct; 1866(10):165875. PubMed ID: 32522631 [TBL] [Abstract][Full Text] [Related]
13. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results. Diaz GA; Giugliani R; Guffon N; Jones SA; Mengel E; Scarpa M; Witters P; Yarramaneni A; Li J; Armstrong NM; Kim Y; Ortemann-Renon C; Kumar M Orphanet J Rare Dis; 2022 Dec; 17(1):437. PubMed ID: 36517856 [TBL] [Abstract][Full Text] [Related]
14. Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis. Cappellini MD; Motta I; Barbato A; Giuffrida G; Manna R; Carubbi F; Giona F Eur J Intern Med; 2023 Feb; 108():81-84. PubMed ID: 36443133 [TBL] [Abstract][Full Text] [Related]
15. Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease. Oliva P; Schwarz M; Mechtler TP; Sansen S; Keutzer J; Prusa AR; Streubel B; Kasper DC Mol Genet Metab; 2023 May; 139(1):107563. PubMed ID: 37086570 [TBL] [Abstract][Full Text] [Related]
16. Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders. Nishith N; Siddiqui SH; R Raja SK; Agrawal N; Phadke S; Sharma S Indian J Pathol Microbiol; 2023; 66(1):91-95. PubMed ID: 36656217 [TBL] [Abstract][Full Text] [Related]
17. Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan. Pan YW; Tsai MC; Yang CY; Yu WH; Wang B; Yang YJ; Chou YY Mol Genet Metab Rep; 2023 Mar; 34():100957. PubMed ID: 36873248 [TBL] [Abstract][Full Text] [Related]
18. A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders. Rappaport J; Manthe RL; Solomon M; Garnacho C; Muro S Mol Pharm; 2016 Feb; 13(2):357-368. PubMed ID: 26702793 [TBL] [Abstract][Full Text] [Related]