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• Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.

  Pinto C, Sousa D, Ghilas V, Dardis A, Scarpa M, Macedo MF. Pinto C, et al. Int J Mol Sci. 2021 Nov 28;22(23):12870. doi: 10.3390/ijms222312870. Int J Mol Sci. 2021. PMID: 34884674 Free PMC article. Review.
• 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. Gomez-Mariano G, et al. Int J Mol Sci. 2023 Aug 10;24(16):12645. doi: 10.3390/ijms241612645. Int J Mol Sci. 2023. PMID: 37628828 Free PMC article.
• Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

  Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Rodríguez-Pascau L, et al. Hum Mutat. 2009 Jul;30(7):1117-22. doi: 10.1002/humu.21018. Hum Mutat. 2009. PMID: 19405096 Free PMC article.
• 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. Geberhiwot T, et al. Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6. Orphanet J Rare Dis. 2023. PMID: 37069638 Free PMC article.
• 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. Wang R, et al. Hereditas. 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. Hereditas. 2023. PMID: 36907956 Free PMC article.