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Pubmed for Handhelds

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Journal Abstract Search

256 related items for PubMed ID: 23147228

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  • 2. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
    de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT.
    Orphanet J Rare Dis; 2012 Sep 26; 7():73. PubMed ID: 23013746
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  • 4. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease.
    van der Beek NA, van Capelle CI, van der Velden-van Etten KI, Hop WC, van den Berg B, Reuser AJ, van Doorn PA, van der Ploeg AT, Stam H.
    Mol Genet Metab; 2011 Sep 26; 104(1-2):129-36. PubMed ID: 21763167
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  • 5. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease.
    Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforêt P, van der Beek NAME.
    Neurology; 2019 Nov 05; 93(19):e1756-e1767. PubMed ID: 31619483
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  • 7. Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
    van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.
    Orphanet J Rare Dis; 2016 May 18; 11(1):65. PubMed ID: 27189384
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  • 8. Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
    van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT.
    J Inherit Metab Dis; 2018 Nov 18; 41(6):1205-1214. PubMed ID: 29556838
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  • 10. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
    Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J, French Pompe Registry Study Group.
    Rev Neurol (Paris); 2013 Nov 18; 169(8-9):595-602. PubMed ID: 24008051
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  • 11. Enzyme replacement therapy and fatigue in adults with Pompe disease.
    Güngör D, de Vries JM, Brusse E, Kruijshaar ME, Hop WC, Murawska M, van den Berg LE, Reuser AJ, van Doorn PA, Hagemans ML, Plug I, van der Ploeg AT.
    Mol Genet Metab; 2013 Jun 18; 109(2):174-8. PubMed ID: 23603069
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  • 15. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.
    Mol Genet Metab; 2013 Nov 18; 110(3):287-9. PubMed ID: 24011652
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  • 16. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients.
    van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, Hagemans ML, van der Ploeg AT.
    J Inherit Metab Dis; 2012 Mar 18; 35(2):317-23. PubMed ID: 21912959
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  • 18. Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.
    Gaeta M, Barca E, Ruggeri P, Minutoli F, Rodolico C, Mazziotti S, Milardi D, Musumeci O, Toscano A.
    Mol Genet Metab; 2013 Nov 18; 110(3):290-6. PubMed ID: 23916420
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  • 20. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
    Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT.
    Pediatrics; 2004 May 18; 113(5):e448-57. PubMed ID: 15121988
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