Works matching Pompe disease

Results: 1030
    1

    庞贝病神经系统损伤的研究进展.

    Published in:
    Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 4, p. 420, doi. 10.7499/j.issn.1008-8830.2211052
    By:
    • 张文超;
    • 毛莹莹;
    • 综述;
    • 陈倩;
    • 审校
    Publication type:
    Article
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    庞贝病诊断与治疗的研究进展.

    Published in:
    Chinese Journal of Contemporary Pediatrics, 2018, v. 20, n. 7, p. 588, doi. 10.7499/j.issn.1008-8830.2018.07.015
    By:
    • 张昕彤 综述;
    • 任卫东 审校
    Publication type:
    Article
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    Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).

    Published in:
    Sleep & Breathing, 2021, v. 25, n. 2, p. 695, doi. 10.1007/s11325-020-02170-6
    By:
    • Yamauchi, Motoo;
    • Nakayama, Hideaki;
    • Shiota, Satomi;
    • Ohshima, Yasuyoshi;
    • Terada, Jiro;
    • Nishijima, Tsuguo;
    • Kosuga, Motomichi;
    • Kitamura, Takuro;
    • Tachibana, Naoko;
    • Oguri, Takuya;
    • Shirahama, Ryutaro;
    • Aoki, Yasuhiro;
    • Ishigaki, Keiko;
    • Sugie, Kazuma;
    • Yagi, Tomoko;
    • Muraki, Hisae;
    • Fujita, Yukio;
    • Takatani, Tsunenori;
    • Muro, Shigeo
    Publication type:
    Article
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    Adultní forma Pompeho nemoci.

    Published in:
    Neurologie Pro Praxi, 2021, v. 22, n. 4, p. 325
    By:
    • Mišurová, Radka;
    • Malinová, Věra
    Publication type:
    Article
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    Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 6, p. 713, doi. 10.3233/JND-210784
    By:
    • Duong, Tina;
    • Kishnani, Priya S.;
    • An Haack, Kristina;
    • Foster, Meredith C.;
    • Gibson, James B.;
    • Wilson, Catherine;
    • Hahn, Si Houn;
    • Hillman, Richard;
    • Kronn, David;
    • Leslie, Nancy D.;
    • Peña, Loren D.M.;
    • Sparks, Susan E.;
    • Stockton, David W.;
    • Tanpaiboon, Pranoot;
    • Day, John W.
    Publication type:
    Article
    13

    Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

    Published in:
    Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728
    By:
    • Chawla, Tanushree;
    • Preethish-Kumar, Veeramani;
    • Polavarapu, Kiran;
    • Vengalil, Seena;
    • Bardhan, Mainak;
    • Puri, RatnaDua;
    • Verma, Jyotsna;
    • Christopher, Rita;
    • Supriya, Manjunath;
    • Nashi, Saraswati;
    • Prasad, Chandrajit;
    • Nadeesh, Bevinahalli;
    • Nalini, Atchayaram
    Publication type:
    Article
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    AFECTAREA CARDIOVASCULARĂ ÎN BOALA POMPE.

    Published in:
    Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2017, v. 66, n. 1, p. 52, doi. 10.37897/rjp.2017.1.11
    By:
    • Luca, Alina-Costina;
    • Braha, Elena
    Publication type:
    Article
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    Diagnose und Therapie des Late-onset-Morbus-Pompe.

    Published in:
    Der Nervenarzt, 2013, v. 84, n. 12, p. 1467, doi. 10.1007/s00115-013-3947-9
    By:
    • Schüller, A.;
    • Kornblum, C.;
    • Deschauer, M.;
    • Vorgerd, M.;
    • Schrank, B.;
    • Mengel, E.;
    • Lukacs, Z.;
    • Gläser, D.;
    • Young, P.;
    • Plöckinger, U.;
    • Schoser, B.
    Publication type:
    Article
    23

    Pompeho choroba - keď nič štandardné neplatí.

    Published in:
    Neurologie Pro Praxi, 2023, v. 24, n. 6, p. 477, doi. 10.36290/neu.2023.069
    By:
    • Holecová, Viera;
    • Grossmanová, Laura;
    • Kothaj, Ján;
    • Martiníková, Martina;
    • Hlavatá, Anna;
    • Vyšehradský, Robert;
    • Mattošová, Slavomíra;
    • Ďurina, Pavol
    Publication type:
    Article
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    Molecular basis and clinical management of Pompe disease.

    Published in:
    Cardiogenetics, 2013, v. 3, n. 1s, p. 30, doi. 10.4081/cardiogenetics.2013.s1.e5
    By:
    • Parenti, Giancarlo;
    • Di Iorio, Giuseppe;
    • Sampaolo, Simone;
    • Fiorentino, Giuseppe;
    • Farina, Vincenzo;
    • Fecarotta, Simona;
    • Valente, Fabio;
    • Ascione, Serena;
    • Caputi, Mario;
    • Andria, Generoso
    Publication type:
    Article
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    Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

    Published in:
    2016
    By:
    • Van Capelle, C. I.;
    • Van der Meijden, J. C.;
    • Van den Hout, J. M. P.;
    • Jaeken, J.;
    • Baethmann, M.;
    • Voit, T.;
    • Kroos, M. A.;
    • Derks, T. G. J.;
    • Rubio-Gozalbo, M. E.;
    • Willemsen, M. A.;
    • Lachmann, R. H.;
    • Mengel, E.;
    • Michelakakis, H.;
    • de Jongste, J. C.;
    • Reuser, A. J. J.;
    • Van der Ploeg, A. T.
    Publication type:
    journal article
    46

    A conceptual disease model for adult Pompe disease.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0334-6
    By:
    • Kanters, Tim A.;
    • Redekop, W. Ken;
    • Rutten-Van Mölken, Maureen P. M. H.;
    • Kruijshaar, Michelle E.;
    • Güngör, Deniz;
    • van der Ploeg, Ans T.;
    • Hakkaart, Leona
    Publication type:
    Article
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    Screening for late-onset Pompe disease in undiagnosed myopathies.

    Published in:
    Neurology & Clinical Neuroscience, 2017, v. 5, n. 2, p. 60, doi. 10.1111/ncn3.12108
    By:
    • Matsui, Misa;
    • Inoue, Kimiko;
    • Sakoda, Saburo;
    • Matsumura, Tsuyoshi;
    • Hamazaki, Takashi;
    • Kosuga, Motomichi;
    • Okuyama, Torayuki;
    • Shimada, Yohta;
    • Ohashi, Toya;
    • Nishino, Ichizo
    Publication type:
    Article