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Journal Abstract Search

593 related items for PubMed ID: 25673129

  • 1. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
    Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.
    J Neurol; 2015; 262(4):968-78. PubMed ID: 25673129
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  • 3. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.
    Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071
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  • 5. Late-onset pompe disease in Iran: A clinical and genetic report.
    Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, Aryani O, Nafissi S.
    Muscle Nerve; 2017 Jun; 55(6):835-840. PubMed ID: 27649523
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  • 6. Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
    Napolitano F, Bruno G, Terracciano C, Franzese G, Palomba NP, Scotto di Carlo F, Signoriello E, De Blasiis P, Navarro S, Gialluisi A, Melone MAB, Sampaolo S, Esposito T.
    Int J Mol Sci; 2021 Mar 31; 22(7):. PubMed ID: 33807278
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  • 7. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
    Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.
    Neuropathol Appl Neurobiol; 2018 Aug 31; 44(5):449-462. PubMed ID: 28574618
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  • 11. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
    Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.
    Adv Ther; 2019 May 31; 36(5):1177-1189. PubMed ID: 30879255
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  • 15. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.
    Orphanet J Rare Dis; 2012 Jun 07; 7():35. PubMed ID: 22676651
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  • 18. Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
    Stepien KM, Hendriksz CJ, Roberts M, Sharma R.
    Mol Genet Metab; 2016 Apr 07; 117(4):413-8. PubMed ID: 26873529
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  • 19. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
    Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A, Italian GSD II group.
    J Neurol Neurosurg Psychiatry; 2016 Jan 07; 87(1):5-11. PubMed ID: 25783438
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  • 20. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov 07; 107(3):485-9. PubMed ID: 23000108
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