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358 related items for PubMed ID: 24008051

  • 1. 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; 169(8-9):595-602. PubMed ID: 24008051
    [Abstract] [Full Text] [Related]

  • 2. Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
    Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Behin A, Sole G, Noury JB, Sacconi S, Magot A, Nadaj-Pakleza A, Lacour A, Beltran S, Spinazzi M, Cintas P, Renard D, Michaud M, Bedat-Millet AL, Prigent H, Taouagh N, Arrassi A, Hamroun D, Attarian S, Laforêt P, for Pompe Study Group.
    Neurology; 2023 Aug 29; 101(9):e966-e977. PubMed ID: 37419682
    [Abstract] [Full Text] [Related]

  • 3. Pompe disease: design, methodology, and early findings from the Pompe Registry.
    Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A.
    Mol Genet Metab; 2011 May 29; 103(1):1-11. PubMed ID: 21439876
    [Abstract] [Full Text] [Related]

  • 4. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.
    Neurology; 2007 Jan 09; 68(2):110-5. PubMed ID: 17210890
    [Abstract] [Full Text] [Related]

  • 5. 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 09; 110(3):287-9. PubMed ID: 24011652
    [Abstract] [Full Text] [Related]

  • 6. [A retrospective study of six patients with late-onset Pompe disease].
    Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.
    Rev Neurol (Paris); 2008 Apr 09; 164(4):336-42. PubMed ID: 18439925
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  • 7. Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
    Echaniz-Laguna A, Carlier RY, Laloui K, Carlier P, Salort-Campana E, Pouget J, Laforet P.
    Muscle Nerve; 2015 Jun 09; 51(6):884-9. PubMed ID: 25786784
    [Abstract] [Full Text] [Related]

  • 8. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
    Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J.
    Med Clin (Barc); 2020 Feb 14; 154(3):80-85. PubMed ID: 31253477
    [Abstract] [Full Text] [Related]

  • 9. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P, French Pompe Study Group.
    J Inherit Metab Dis; 2018 Nov 14; 41(6):937-946. PubMed ID: 30155607
    [Abstract] [Full Text] [Related]

  • 10. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry.
    Semplicini C, De Antonio M, Taouagh N, Béhin A, Bouhour F, Echaniz-Laguna A, Magot A, Nadaj-Pakleza A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Tard C, Zagnoli F, Hogrel JY, Hamroun D, Laforêt P, French Pompe Study Group.
    J Inherit Metab Dis; 2020 Nov 14; 43(6):1219-1231. PubMed ID: 32515844
    [Abstract] [Full Text] [Related]

  • 11. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry.
    Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE.
    Mol Genet Metab; 2011 Dec 14; 104(4):574-82. PubMed ID: 21930409
    [Abstract] [Full Text] [Related]

  • 12. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
    van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL.
    Mol Genet Metab; 2016 Sep 14; 119(1-2):115-23. PubMed ID: 27473031
    [Abstract] [Full Text] [Related]

  • 13. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
    Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B.
    Neuromuscul Disord; 2015 Sep 14; 25(9):719-24. PubMed ID: 26231297
    [Abstract] [Full Text] [Related]

  • 14. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.
    Ünver O, Hacıfazlıoğlu NE, Karatoprak E, Güneş AS, Sağer G, Kutlubay B, Sözen G, Saltık S, Yılmaz K, Kara B, Türkdoğan D.
    Neuromuscul Disord; 2016 Nov 14; 26(11):796-800. PubMed ID: 27666774
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  • 16. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
    Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J.
    Mol Genet Metab; 2014 Nov 14; 113(1-2):84-91. PubMed ID: 25085280
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  • 20. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
    Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V.
    Orphanet J Rare Dis; 2017 Nov 17; 12(1):173. PubMed ID: 29149851
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