[1] |
Niemann-Pick disease: own observations and new therapeutic options[J]. Orv Hetil, 2021, 162(2): 74-80.
doi: 10.1556/650.2021.31950
URL
|
[2] |
Wheeler S, Sillence DJ. Niemann-Pick type C disease: cellular pathology and pharmacotherapy[J]. J Neurochem, 2020, 153(6): 674-692.
doi: 10.1111/jnc.14895
pmid: 31608980
|
[3] |
McGovern MM, Wasserstein MP, Bembi B, et al. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation[J]. Orphanet J Rare Dis, 2021, 16(1): 212.
doi: 10.1186/s13023-021-01842-0
pmid: 33971920
|
[4] |
Schuchman EH, Desnick RJ. Types A and B Niemann-Pick disease[J]. Mol Genet Metab, 2017, 120(1-2): 27-33.
doi: S1096-7192(16)30317-1
pmid: 28164782
|
[5] |
Zampieri S, Filocamo M, Pianta A, et al. SMPD1 mutation update: database and comprehensive analysis of published and novel variants[J]. Hum Mutat, 2016, 37(2): 139-147.
doi: 10.1002/humu.22923
pmid: 26499107
|
[6] |
Alcalay RN, Mallett V, Vanderperre B, et al. SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson’s disease[J]. Mov Disord, 2019, 34(4): 526-535.
doi: 10.1002/mds.27642
URL
|
[7] |
Ordieres-Ortega L, Galeano-Valle F, Mallén-Pérez M, et al. Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management[J]. BMC Med Genet, 2020, 21(1): 1-6.
doi: 10.1186/s12881-019-0942-4
URL
|
[8] |
Pinto C, Sousa D, Ghilas V, et al. Acid sphingomyelinase deficiency[J]. Int J Mol Sci, 2021, 22(23): 12870.
doi: 10.3390/ijms222312870
URL
|
[9] |
Thurberg BL. Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick disease type A)[J]. Mol Genet Metab Rep, 2020, 24: 100626.
|
[10] |
Moles A, Tarrats N, Fernández-Checa JC, et al. Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease[J]. J Biol Chem, 2012, 287(2):1178-1188.
doi: 10.1074/jbc.M111.272393
pmid: 22102288
|
[11] |
Dhami R, He X, Gordon RE, et al. Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase[J]. Lab Invest, 2001, 81(7): 987-999.
pmid: 11454988
|
[12] |
Cerón-Rodríguez M, Vázquez-Martínez ER, García-Delgado C, et al. Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population[J]. Ann Hepatol, 2019, 18(4): 613-619.
doi: S1665-2681(19)30056-0
pmid: 31122880
|
[13] |
Cox GF, Clarke LA, Giugliani R, et al. Burden of illness in acid sphingomyelinase deficiency[J]. JIMD Rep, 2018, 41: 119-129.
|
[14] |
Al-Eitan L, Alqa’qa’ K, Amayreh W, et al. Novel mutations in the SMPD1 gene in Jordanian children with acid sphingomyelinase deficiency (Niemann-Pick types A and B)[J]. Gene, 2020, 747: 144683.
doi: 10.1016/j.gene.2020.144683
URL
|
[15] |
McGovern MM, Dionisi-Vici C, Giugliani R, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency[J]. Genet Med, 2017, 19(9): 967-974.
doi: 10.1038/gim.2017.7
pmid: 28406489
|
[16] |
Cassiman D, Packman S, Bembi B, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant)[J]. Mol Genet Metab, 2016, 118(3): 206-213.
doi: 10.1016/j.ymgme.2016.05.001
pmid: 27198631
|
[17] |
McGovern MM, Avetisyan R, Sanson BJ, et al. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency(ASMD)[J]. Orphanet J Rare Dis, 2017, 12(1):41.
doi: 10.1186/s13023-017-0572-x
URL
|
[18] |
Wasserstein M, Godbold J, McGovern MM. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B[J]. J Inherit Metab Dis, 2013, 36(1): 123-127.
doi: 10.1007/s10545-012-9503-0
pmid: 22718274
|
[19] |
徐威, 翟允鹏, 常宏, 等. 脾切除治疗成人型尼曼-匹克病1例[J]. 中国现代普通外科进展, 2014, 17(1): 81-82.
|
[20] |
Lipiński P, Kuchar L, Zakharova EY, et al. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients[J]. Orphanet J Rare Dis, 2019, 14(1):55.
doi: 10.1186/s13023-019-1029-1
pmid: 30795770
|
[21] |
Bender CV, da Silveira HLD, Dos Santos NS, et al. Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency[J]. Am J Med Genet A, 2020, 182(12): 2891-2901.
doi: 10.1002/ajmg.a.61871
URL
|
[22] |
Jones SA, McGovern M, Lidove O, et al. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy[J]. Mol Genet Metab, 2020, 131(1-2): 116-123.
doi: 10.1016/j.ymgme.2020.06.008
pmid: 32616389
|
[23] |
Liu Y, Luo Y, Xia L, et al. The effects of liver transplantation in children with Niemann-Pick disease type B.[J]. Liver Transpl, 2019, 25(8): 1233-1240.
doi: 10.1002/lt.25457
URL
|
[24] |
陈姣, 刘小梅, 肖娟, 等. 异基因造血干细胞移植治疗尼曼匹克病B型1例[J]. 中国小儿血液与肿瘤杂志, 2021, 26(1): 48-50.
|
[25] |
Quarello P, Spada M, Porta F, et al. Hematopoietic stem cell transplantation in Niemann-Pick disease type B monitored by chitotriosidase activity[J]. Pediatr Blood Cancer, 2018, 65(2): 10.
|
[26] |
Mercati O, Pichard S, Ouachée M, et al. Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type[J]. Eur J Paediatr Neurol, 2017, 21(6): 907-911.
doi: 10.1016/j.ejpn.2017.07.015
URL
|
[27] |
McGovern MM, Wasserstein MP, Kirmse B, et al. Novel first-dose adverse drug reactions during a phase Ⅰ trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency)[J]. Genet Med, 2016, 18(1): 34-40.
doi: 10.1038/gim.2015.24
URL
|
[28] |
Wasserstein MP, Jones SA, Soran H, et al. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency[J]. Mol Genet Metab, 2015, 116 (1-2): 88-97.
doi: 10.1016/j.ymgme.2015.05.013
pmid: 26049896
|
[29] |
Wasserstein MP, Diaz GA, Lachmann RH, et al. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD)[J]. J Inherit Metab Dis, 2018, 41(5): 829-838.
doi: 10.1007/s10545-017-0123-6
pmid: 29305734
|
[30] |
Thurberg BL, Diaz GA, Lachmann RH, et al. Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency(ASMD)[J]. Mol Genet Metab, 2020, 131(1-2): 245-252.
doi: 10.1016/j.ymgme.2020.06.010
pmid: 32620536
|
[31] |
Garnacho C, Dhami R, Solomon M, et al. Enhanced delivery and effects of acid sphingomyelinase by ICAM-1-targeted nanocarriers in type B Niemann-Pick disease mice[J]. Mol Ther, 2017, 25(7): 1686-1696.
doi: S1525-0016(17)30232-0
pmid: 28606376
|
[32] |
Hughes MP, Smith DA, Morris L, et al. AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease[J]. Hum Mol Genet, 2018, 27(17): 3079-3098.
doi: 10.1093/hmg/ddy212
pmid: 29878115
|
[33] |
Samaranch L, Pérez-Cañamás A, Soto-Huelin B, et al. Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pick disease type A[J]. Sci Transl Med, 2019, 11(506): eaat3738.
doi: 10.1126/scitranslmed.aat3738
URL
|
[34] |
Zou S, Kumar U. Cannabinoid receptors and the endocannabinoid system[J]. Int J Mol Sci, 2018, 19(3): 833.
doi: 10.3390/ijms19030833
URL
|
[35] |
Bartoll A, Toledano-Zaragoza A, Casas J, et al. Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling[J]. EMBO Mol Med, 2020, 12(11): e11776.
|