213 related articles for article (PubMed ID: 32616389)
1. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Jones SA; McGovern M; Lidove O; Giugliani R; Mistry PK; Dionisi-Vici C; Munoz-Rojas MV; Nalysnyk L; Schecter AD; Wasserstein M
Mol Genet Metab; 2020; 131(1-2):116-123. PubMed ID: 32616389
[TBL] [Abstract][Full Text] [Related]
2. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).
McGovern MM; Avetisyan R; Sanson BJ; Lidove O
Orphanet J Rare Dis; 2017 Feb; 12(1):41. PubMed ID: 28228103
[TBL] [Abstract][Full Text] [Related]
3. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D; Packman S; Bembi B; Turkia HB; Al-Sayed M; Schiff M; Imrie J; Mabe P; Takahashi T; Mengel KE; Giugliani R; Cox GF
Mol Genet Metab; 2016 Jul; 118(3):206-213. PubMed ID: 27198631
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Wasserstein M; Lachmann R; Hollak C; Arash-Kaps L; Barbato A; Gallagher RC; Giugliani R; Guelbert NB; Ikezoe T; Lidove O; Mabe P; Mengel E; Scarpa M; Senates E; Tchan M; Villarrubia J; Chen Y; Furey S; Thurberg BL; Zaher A; Kumar M
Genet Med; 2022 Jul; 24(7):1425-1436. PubMed ID: 35471153
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P; Kuchar L; Zakharova EY; Baydakova GV; Ługowska A; Tylki-Szymańska A
Orphanet J Rare Dis; 2019 Feb; 14(1):55. PubMed ID: 30795770
[TBL] [Abstract][Full Text] [Related]
8. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).
Wasserstein M; Dionisi-Vici C; Giugliani R; Hwu WL; Lidove O; Lukacs Z; Mengel E; Mistry PK; Schuchman EH; McGovern M
Mol Genet Metab; 2019 Feb; 126(2):98-105. PubMed ID: 30514648
[TBL] [Abstract][Full Text] [Related]
9. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
Geberhiwot T; Wasserstein M; Wanninayake S; Bolton SC; Dardis A; Lehman A; Lidove O; Dawson C; Giugliani R; Imrie J; Hopkin J; Green J; de Vicente Corbeira D; Madathil S; Mengel E; Ezgü F; Pettazzoni M; Sjouke B; Hollak C; Vanier MT; McGovern M; Schuchman E
Orphanet J Rare Dis; 2023 Apr; 18(1):85. PubMed ID: 37069638
[TBL] [Abstract][Full Text] [Related]
10. Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France.
Mauhin W; Borie R; Dalbies F; Douillard C; Guffon N; Lavigne C; Lidove O; Brassier A
J Clin Med; 2022 Feb; 11(4):. PubMed ID: 35207195
[TBL] [Abstract][Full Text] [Related]
11. Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
Pinto C; Sousa D; Ghilas V; Dardis A; Scarpa M; Macedo MF
Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884674
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
Mengel E; Muschol N; Weinhold N; Ziagaki A; Neugebauer J; Antoni B; Langer L; Gasparic M; Guillonneau S; Fournier M; Laredo F; Pulikottil-Jacob R
Orphanet J Rare Dis; 2024 Apr; 19(1):161. PubMed ID: 38615062
[TBL] [Abstract][Full Text] [Related]
14. Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.
Scarpa M; Barbato A; Bisconti A; Burlina A; Concolino D; Deodato F; Di Rocco M; Dionisi-Vici C; Donati MA; Fecarotta S; Fiumara A; Galeone C; Giona F; Giuffrida G; Manna R; Mariani P; Pession A; Scopinaro A; Spada M; Spandonaro F; Trifirò G; Carubbi F; Cappellini MD
Intern Emerg Med; 2023 Apr; 18(3):831-842. PubMed ID: 36882619
[TBL] [Abstract][Full Text] [Related]
15. [Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].
Lidove O; Belmatoug N; Froissart R; Lavigne C; Durieu I; Mazodier K; Serratrice C; Douillard C; Goizet C; Cathebras P; Besson G; Amoura Z; Tazi A; Gatfossé M; Rivière S; Sené T; Vanier MT; Ziza JM
Rev Med Interne; 2017 May; 38(5):291-299. PubMed ID: 27884455
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
Cox GF; Clarke LA; Giugliani R; McGovern MM
JIMD Rep; 2018; 41():119-129. PubMed ID: 29995201
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]