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Journal Abstract Search

232 related items for PubMed ID: 27725636

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  • 5. Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models.
    Jones I, He X, Katouzian F, Darroch PI, Schuchman EH.
    Mol Genet Metab; 2008 Nov; 95(3):152-62. PubMed ID: 18815062
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  • 6. A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase.
    Seto M, Whitlow M, McCarrick MA, Srinivasan S, Zhu Y, Pagila R, Mintzer R, Light D, Johns A, Meurer-Ogden JA.
    Protein Sci; 2004 Dec; 13(12):3172-86. PubMed ID: 15557261
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  • 7. Structure of Human Acid Sphingomyelinase Reveals the Role of the Saposin Domain in Activating Substrate Hydrolysis.
    Xiong ZJ, Huang J, Poda G, Pomès R, Privé GG.
    J Mol Biol; 2016 Jul 31; 428(15):3026-42. PubMed ID: 27349982
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  • 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 01; 19(1):36. PubMed ID: 38303068
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  • 10. Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
    Takahashi T, Suchi M, Desnick RJ, Takada G, Schuchman EH.
    J Biol Chem; 1992 Jun 25; 267(18):12552-8. PubMed ID: 1618760
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  • 14. Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.
    Lachmann RH, Diaz GA, Wasserstein MP, Armstrong NM, Yarramaneni A, Kim Y, Kumar M.
    Orphanet J Rare Dis; 2023 Apr 25; 18(1):94. PubMed ID: 37098529
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  • 16. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
    Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, Yarramaneni A, Armstrong NM, Kim Y, Kumar M.
    Orphanet J Rare Dis; 2023 Dec 02; 18(1):378. PubMed ID: 38042851
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  • 17. Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
    Diaz GA, Giugliani R, Guffon N, Jones SA, Mengel E, Scarpa M, Witters P, Yarramaneni A, Li J, Armstrong NM, Kim Y, Ortemann-Renon C, Kumar M.
    Orphanet J Rare Dis; 2022 Dec 14; 17(1):437. PubMed ID: 36517856
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  • 18. Novel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B).
    Al-Eitan L, Alqa'qa' K, Amayreh W, Aljamal H, Khasawneh R, Al-Zoubi B, Okour I, Haddad A, Haddad Y, Haddad H.
    Gene; 2020 Jul 15; 747():144683. PubMed ID: 32311413
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  • 19. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.
    Wasserstein MP, Diaz GA, Lachmann RH, Jouvin MH, Nandy I, Ji AJ, Puga AC.
    J Inherit Metab Dis; 2018 Sep 15; 41(5):829-838. PubMed ID: 29305734
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