195 related articles for article (PubMed ID: 32088119)
1. Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes ECB; Sjouke B; Vaz FM; Goorden SMI; van Kuilenburg ABP; Aerts JMFG; Hollak CEM
Mol Genet Metab; 2020 May; 130(1):16-26. PubMed ID: 32088119
[TBL] [Abstract][Full Text] [Related]
2. Glycoprotein non-metastatic protein B (GPNMB) plasma values in patients with chronic visceral acid sphingomyelinase deficiency.
Eskes ECB; van der Lienden MJC; Sjouke B; van Vliet L; Brands MMMG; Hollak CEM; Aerts JMFG
Mol Genet Metab; 2023 Aug; 139(4):107631. PubMed ID: 37453187
[TBL] [Abstract][Full Text] [Related]
3. Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
Kuchar L; Sikora J; Gulinello ME; Poupetova H; Lugowska A; Malinova V; Jahnova H; Asfaw B; Ledvinova J
Anal Biochem; 2017 May; 525():73-77. PubMed ID: 28259515
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.
Hollak CE; de Sonnaville ES; Cassiman D; Linthorst GE; Groener JE; Morava E; Wevers RA; Mannens M; Aerts JM; Meersseman W; Akkerman E; Niezen-Koning KE; Mulder MF; Visser G; Wijburg FA; Lefeber D; Poorthuis BJ
Mol Genet Metab; 2012 Nov; 107(3):526-33. PubMed ID: 22818240
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
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. 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]
10. 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]
11. 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]
12. CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency.
Chang KL; Hwu WL; Yeh HY; Lee NC; Chien YH
Blood Cells Mol Dis; 2010 Jan; 44(1):38-40. PubMed ID: 19819171
[No Abstract] [Full Text] [Related]
13. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency.
Deodato F; Boenzi S; Taurisano R; Semeraro M; Sacchetti E; Carrozzo R; Dionisi-Vici C
Clin Chim Acta; 2018 Nov; 486():387-394. PubMed ID: 30153451
[TBL] [Abstract][Full Text] [Related]
14. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
McGovern MM; Dionisi-Vici C; Giugliani R; Hwu P; Lidove O; Lukacs Z; Eugen Mengel K; Mistry PK; Schuchman EH; Wasserstein MP
Genet Med; 2017 Sep; 19(9):967-974. PubMed ID: 28406489
[TBL] [Abstract][Full Text] [Related]
15. Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review.
von Ranke FM; Pereira Freitas HM; Mançano AD; Rodrigues RS; Hochhegger B; Escuissato D; Araujo Neto CA; da Silva TK; Marchiori E
Lung; 2016 Aug; 194(4):511-8. PubMed ID: 27164983
[TBL] [Abstract][Full Text] [Related]
16. Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.
Thurberg BL
Mol Genet Metab Rep; 2020 Sep; 24():100626. PubMed ID: 32714837
[TBL] [Abstract][Full Text] [Related]
17. Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski F; Burlina A; Pereira D; Silva C; Herbst ZM; Trapp FB; Michelin-Tirelli K; Lopes FF; Burin MG; Brusius-Facchin AC; Netto ABO; Poletto E; Bernardes TM; Carvalho GS; Sorte NB; Ferreira FN; Perin N; Clivati MR; de Santana MTS; Lobos SFG; Leão EKEA; Coutinho MP; Pinos PV; Santos MLSF; Penatti DA; Lourenço CM; Polo G; Giugliani R
Orphanet J Rare Dis; 2022 Nov; 17(1):407. PubMed ID: 36348386
[TBL] [Abstract][Full Text] [Related]
18. Atherogenic lipid profile in patients with Niemann-Pick disease type B: What treatment strategies?
Maines E; Franceschi R; Rizzardi C; Deodato F; Piccoli G; Gragnaniello V; Burlina A; Soffiati M
J Clin Lipidol; 2022; 16(2):143-154. PubMed ID: 35181260
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]