[1] SternG. Niemann-Pick′s and Gaucher′s diseases[J]. Parkinsonism Related Disorders, 2014, 20: S143-146. [2] YañezM J, Marín T, Balboa E, et al. Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: opportunities for shared therapeutic interventions[J]. Biochim Biophys Acta Mol Basis Dis , 2020, 1866(10): 165875. [3] MartinsR S, Rocha S, Guimas A, et al. Niemann-Pick type B: a rare cause of interstitial lung disease[J]. Cureus, 2022, 14(1): e21230. [4] FerreiraC R, Karnebeek C D M V, Vockley J, et al. A proposed nosology of inborn errors of metabolism[J]. Genet Med, 2019, 21(1): 102-106. [5] GeberhiwotT, Wasserstein M, Wanninayake S, et al. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)[J]. Orphanet J Rare Dis, 2023, 18(1):85. [6] IaselliF, Rea G, Cappabianca S, et al. Adult-onset pulmonary involvement in Niemann-Pick disease type B[J]. Monaldi Arch Chest Dis,2011,75(4):235-240. [7] McgovernM M, Lippa N, Bagiela E, et al. Morbidity and mortality in type B Niemann-Pick disease[J]. Genet Med ,2013, 15(8): 618-623. [8] VanierM T. Prenatal diagnosis of Niemann-Pick diseases types A, B and C[J]. Prenat Diagn,2002,22(7):630-632. [9] PfriegerF W. The Niemann-Pick type diseases-A synopsis of inborn errors in sphingolipid and cholesterol metabolism[J]. Prog Lipid Res, 2023, 90:101225. [10] ThurbergB L, Wasserstein M P, Schiano T, et al. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B)[J]. Am J Surg Pathol, 2012, 36(8): 1234-1246. [11] LipińskiP, Kuchar L, Zakharova E Y, et al. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up[J]. Orphanet J Rare Dis, 2019, 14(1):55. [12] CassimanD, 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): Literature review and report of new cases[J]. Mol Genet Metab, 2016, 118(3): 206-213. [13] McGovernM M, Wasserstein M P, Giugliani R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B[J]. Pediatrics, 2008, 122(2): e341-e349. [14] SimõesR G, Maia H. Niemann-Pick type B in adulthood[J]. BMJ Case Rep, 2015,2015:bcr2014208286. [15] WassersteinM, Lachmann R, Hollak C, et al. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: one-year results[J]. Genet Med, 2022, 24(7): 1425-1436. [16] KadaliS, Kolusu A, Sunkara S, et al. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: a retrospective study from India[J]. Clin Chim Acta, 2016, 457: 8-11. [17] LevranO, Desnick R J, Schuchman E H. Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients[J]. J Clin Invest,1991,88(3):806-810. [18] MihaylovaV, Hantke J, Sinigerska I, et al. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation[J]. Brain, 2007, 130(4): 1050-1061. [19] MainesE, Franceschi R, Rizzardi C, et al. Atherogenic lipid profile in patients with Niemann-Pick disease type B: what treatment strategies?[J]. J Clin Lipidol, 2022, 16(2): 143-154. [20] SantosR, Amaral O. Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy[J]. Int J Mol Sci, 2019, 20(23):5897. [21] Lyseng-WilliamsonK A. Miglustat: a review of its use in Niemann-Pick disease type C[J]. Drugs, 2014, 74(1): 61-74. [22] PattersonM C, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update[J]. Neurol Clin Pract. 2017,7(6):499-511. |