158 related articles for article (PubMed ID: 38615062)
21. Natural history of acid sphingomyelinase deficiency among European patients during childhood and adolescence: A retrospective observational study.
Mengel E; Scarpa M; Guffon N; Jones SA; Goriya V; Msihid J; Dyevre V; Rodriguez C; Gasparic M; Nalysnyk L; Laredo F; Pulikottil-Jacob R
Eur J Med Genet; 2024 Jun; 70():104954. PubMed ID: 38852770
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.
Breilyn MS; Zhang W; Yu C; Wasserstein MP
Mol Genet Metab Rep; 2021 Sep; 28():100780. PubMed ID: 34285875
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Modulation of Dietary Choline Uptake in a Mouse Model of Acid Sphingomyelinase Deficiency.
Gaudioso Á; Moreno-Huguet P; Casas J; Schuchman EH; Ledesma MD
Int J Mol Sci; 2023 Jun; 24(11):. PubMed ID: 37298714
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. 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]
30. SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R; Qin Z; Huang L; Luo H; Peng H; Zhou X; Zhao Z; Liu M; Yang P; Shi T
Hereditas; 2023 Mar; 160(1):11. PubMed ID: 36907956
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G; Perez-Luz S; Ramos-Del Saz S; Matamala N; Hernandez-SanMiguel E; Fernandez-Prieto M; Gil-Martin S; Justo I; Marcacuzco A; Martinez-Delgado B
Int J Mol Sci; 2023 Aug; 24(16):. PubMed ID: 37628828
[TBL] [Abstract][Full Text] [Related]
33. Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
Al-Eitan L; Alqa'qa' K; Amayreh W; Aljamal H; Khasawneh R; Al-Zoubi B; Okour I; Haddad A; Haddad Y; Haddad H
Gene; 2020 Jul; 747():144683. PubMed ID: 32311413
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Case report: The spectrum of SMPD1 pathogenic variants in Hungary.
Molnar MJ; Szlepak T; Csürke I; Loth S; Káposzta R; Erdős M; Dezsőfi A
Front Genet; 2023; 14():1158108. PubMed ID: 37347058
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Health insurance literacy and health services access barriers in Niemann-Pick disease: the patient and caregiver voice.
Diaz GA; Crowe J; Hopkin J
Orphanet J Rare Dis; 2022 Sep; 17(1):332. PubMed ID: 36056366
[TBL] [Abstract][Full Text] [Related]
40. Interstitial lung disease in lysosomal storage disorders.
Borie R; Crestani B; Guyard A; Lidove O
Eur Respir Rev; 2021 Jun; 30(160):. PubMed ID: 33927007
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]