217 related articles for article (PubMed ID: 37298714)
21. Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.
Thurberg BL; Wasserstein MP; Jones SA; Schiano TD; Cox GF; Puga AC
Am J Surg Pathol; 2016 Sep; 40(9):1232-42. PubMed ID: 27340749
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A.
Samaranch L; Pérez-Cañamás A; Soto-Huelin B; Sudhakar V; Jurado-Arjona J; Hadaczek P; Ávila J; Bringas JR; Casas J; Chen H; He X; Schuchman EH; Cheng SH; Forsayeth J; Bankiewicz KS; Ledesma MD
Sci Transl Med; 2019 Aug; 11(506):. PubMed ID: 31434754
[TBL] [Abstract][Full Text] [Related]
25. Lipid-induced lysosomal damage after demyelination corrupts microglia protective function in lysosomal storage disorders.
Gabandé-Rodríguez E; Pérez-Cañamás A; Soto-Huelin B; Mitroi DN; Sánchez-Redondo S; Martínez-Sáez E; Venero C; Peinado H; Ledesma MD
EMBO J; 2019 Jan; 38(2):. PubMed ID: 30530526
[TBL] [Abstract][Full Text] [Related]
26. Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics.
Murray JM; Thompson AM; Vitsky A; Hawes M; Chuang WL; Pacheco J; Wilson S; McPherson JM; Thurberg BL; Karey KP; Andrews L
Mol Genet Metab; 2015 Feb; 114(2):217-25. PubMed ID: 25092414
[TBL] [Abstract][Full Text] [Related]
27. An Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Ota S; Noguchi A; Kondo D; Nakajima Y; Ito T; Arai H; Takahashi T
Tohoku J Exp Med; 2020 Jan; 250(1):5-11. PubMed ID: 31941852
[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. Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease.
Dhami R; He X; Gordon RE; Schuchman EH
Lab Invest; 2001 Jul; 81(7):987-99. PubMed ID: 11454988
[TBL] [Abstract][Full Text] [Related]
30. Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.
Ziegler RJ; Brown C; Barbon CM; D'Angona AM; Schuchman EH; Andrews L; Thurberg BL; McPherson JM; Karey KP; Cheng SH
Mol Genet Metab; 2009 May; 97(1):35-42. PubMed ID: 19231265
[TBL] [Abstract][Full Text] [Related]
31. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease.
Dodge JC; Clarke J; Treleaven CM; Taksir TV; Griffiths DA; Yang W; Fidler JA; Passini MA; Karey KP; Schuchman EH; Cheng SH; Shihabuddin LS
Exp Neurol; 2009 Feb; 215(2):349-57. PubMed ID: 19059399
[TBL] [Abstract][Full Text] [Related]
32. Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease.
Pérez-Cañamás A; Benvegnù S; Rueda CB; Rábano A; Satrústegui J; Ledesma MD
Mol Psychiatry; 2017 May; 22(5):711-723. PubMed ID: 27620840
[TBL] [Abstract][Full Text] [Related]
33. High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A.
Gabandé-Rodríguez E; Boya P; Labrador V; Dotti CG; Ledesma MD
Cell Death Differ; 2014 Jun; 21(6):864-75. PubMed ID: 24488099
[TBL] [Abstract][Full Text] [Related]
34. Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency.
Poczobutt JM; Mikosz AM; Poirier C; Beatman EL; Serban KA; Gally F; Cao D; McCubbrey AL; Cornell CF; Schweitzer KS; Berdyshev EV; Bronova IA; Paris F; Petrache I
Am J Respir Cell Mol Biol; 2021 May; 64(5):629-640. PubMed ID: 33662226
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease.
Dodge JC; Clarke J; Song A; Bu J; Yang W; Taksir TV; Griffiths D; Zhao MA; Schuchman EH; Cheng SH; O'Riordan CR; Shihabuddin LS; Passini MA; Stewart GR
Proc Natl Acad Sci U S A; 2005 Dec; 102(49):17822-7. PubMed ID: 16301517
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Alveolar lipoproteinosis in an acid sphingomyelinase-deficient mouse model of Niemann-Pick disease.
Ikegami M; Dhami R; Schuchman EH
Am J Physiol Lung Cell Mol Physiol; 2003 Mar; 284(3):L518-25. PubMed ID: 12495943
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
