221 related articles for article (PubMed ID: 36056366)
1. 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]
2. Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective.
Pokrzywinski R; Hareendran A; Nalysnyk L; Cowie S; Crowe J; Hopkin J; Joshi D; Pulikottil-Jacob R
Sci Rep; 2021 Oct; 11(1):20972. PubMed ID: 34697402
[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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.
Mengel E; Patterson MC; Chladek M; Guldberg C; Í Dali C; Symonds T; Lloyd-Price L; Mathieson T; Crowe J; Burbridge C
Orphanet J Rare Dis; 2021 Nov; 16(1):493. PubMed ID: 34819124
[TBL] [Abstract][Full Text] [Related]
13. A Rare Case of Niemann-Pick Disease Type-A.
Gul F; Begum S; Rasool P; Shah S; Waqar M
Cureus; 2024 Apr; 16(4):e59427. PubMed ID: 38826605
[TBL] [Abstract][Full Text] [Related]
14. [Adult psychiatric aspects of Niemann-Pick disease].
Faludi G; Gonda X; Döme P
Neuropsychopharmacol Hung; 2013 Jun; 15(2):95-103. PubMed ID: 23817360
[TBL] [Abstract][Full Text] [Related]
15. The experience of living with Niemann-Pick type C: a patient and caregiver perspective.
Golden E; van Gool R; Cay M; Goodlett B; Cao A; Al-Hertani W; Upadhyay J
Orphanet J Rare Dis; 2023 May; 18(1):120. PubMed ID: 37210540
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Quality of Health Insurance Coverage and Access to Care for Children in Low-Income Families.
Kreider AR; French B; Aysola J; Saloner B; Noonan KG; Rubin DM
JAMA Pediatr; 2016 Jan; 170(1):43-51. PubMed ID: 26569497
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]