Works matching Niemann-Pick Disease

Results: 1458
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    Niemann-Pick disease.

    Published in:
    International Journal of Child Health & Human Development, 2020, v. 13, n. 3, p. 273
    By:
    • Saeedian, Jasmine;
    • Hekmatjah, Joshua
    Publication type:
    Article
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    Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.

    Published in:
    Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x
    By:
    • Benussi, Alberto;
    • Alberici, Antonella;
    • Premi, Enrico;
    • Bertasi, Valeria;
    • Cotelli, Maria;
    • Turla, Marinella;
    • Dardis, Andrea;
    • Zampieri, Stefania;
    • Marchina, Eleonora;
    • Paghera, Barbara;
    • Gallivanone, Francesca;
    • Castiglioni, Isabella;
    • Padovani, Alessandro;
    • Borroni, Barbara
    Publication type:
    Article
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    Novel Mutation in the Feline NPC2 Gene in Cats with Niemann–Pick Disease.

    Published in:
    Animals (2076-2615), 2023, v. 13, n. 11, p. 1744, doi. 10.3390/ani13111744
    By:
    • Rakib, Tofazzal Md;
    • Islam, Md Shafiqul;
    • Uddin, Mohammad Mejbah;
    • Rahman, Mohammad Mahbubur;
    • Yabuki, Akira;
    • Yamagami, Tetsushi;
    • Morozumi, Motoji;
    • Uchida, Kazuyuki;
    • Maki, Shinichiro;
    • Faruq, Abdullah Al;
    • Yamato, Osamu
    Publication type:
    Article
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    Alterations of myelin-specific proteins and sphingolipids characterize the brains of acid sphingomyelinase-deficient mice, an animal model of Niemann–Pick disease type A.

    Published in:
    Journal of Neurochemistry, 2009, v. 109, n. 1, p. 105, doi. 10.1111/j.1471-4159.2009.05947.x
    By:
    • Buccinnà, Barbara;
    • Piccinini, Marco;
    • Prinetti, Alessandro;
    • Scandroglio, Federica;
    • Prioni, Simona;
    • Valsecchi, Manuela;
    • Votta, Barbara;
    • Grifoni, Silvia;
    • Lupino, Elisa;
    • Ramondetti, Cristina;
    • Schuchman, Edward H.;
    • Giordana, Maria Teresa;
    • Sonnino, Sandro;
    • Rinaudo, Maria Teresa
    Publication type:
    Article
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    Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
    By:
    • Fecarotta, Simona;
    • Romano, Alfonso;
    • Casa, Roberto Della;
    • Giudice, Ennio Del;
    • Bruschini, Diana;
    • Mansi, Giuseppina;
    • Bembi, Bruno;
    • Dardis, Andrea;
    • Fiumara, Agata;
    • Rocco, Maja Di;
    • Uziel, Graziella;
    • Ardissone, Anna;
    • Roccatello, Dario;
    • Alpa, Mirella;
    • Bertini, Enrico;
    • D'Amico, Adele;
    • Dionisi-Vici, Carlo;
    • Deodato, Federica;
    • Caviglia, Stefania;
    • Federico, Antonio
    Publication type:
    Article
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    Niemann Pick Sendromlu Bir Hastada Anestezik Yaklaşım.

    Published in:
    Journal of Current Pediatrics / Guncel Pediatri, 2013, v. 11, n. 1, p. 42, doi. 10.4274/Jcp.11.08
    By:
    • Mercanoğlu, Esra;
    • Akoğul, Zeynep;
    • Bebek, Ayşe;
    • Karaman, Emine;
    • Ahun, Filiz;
    • Özcan, Berrin
    Publication type:
    Article
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    Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02804-4
    By:
    • Freihuber, Cécile;
    • Dahmani-Rabehi, Bahia;
    • Brassier, Anaïs;
    • Broué, Pierre;
    • Cances, Claude;
    • Chabrol, Brigitte;
    • Eyer, Didier;
    • Labarthe, François;
    • Latour, Philippe;
    • Levade, Thierry;
    • Pichard, Samia;
    • Sevin, Caroline;
    • Vanier, Marie T.;
    • Héron, Bénédicte
    Publication type:
    Article
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    Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039
    By:
    • Kubaski, Francyne;
    • Burlina, Alberto;
    • Polo, Giulia;
    • Pereira, Danilo;
    • Herbst, Zackary M.;
    • Silva, Camilo;
    • Trapp, Franciele B.;
    • Michelin-Tirelli, Kristiane;
    • Lopes, Franciele F.;
    • Burin, Maira G.;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice B. O.;
    • Faqueti, Larissa;
    • Iop, Gabrielle D.;
    • Poletto, Edina;
    • Giugliani, Roberto
    Publication type:
    Article
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