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Journal Abstract Search

190 related items for PubMed ID: 30878973

  • 1. Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
    Meznaric M, Fumic K, Leonardis L.
    J Clin Pathol; 2019 Jul; 72(7):468-472. PubMed ID: 30878973
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  • 2. Tongue weakness and atrophy differentiates late-onset Pompe disease from other forms of acquired/hereditary myopathy.
    Jones HN, Hobson-Webb LD, Kuchibhatla M, Crisp KD, Whyte-Rayson A, Batten MT, Zwelling PJ, Kishnani PS.
    Mol Genet Metab; 2021 Jul; 133(3):261-268. PubMed ID: 34053870
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  • 3. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
    Confalonieri M, Vitacca M, Scala R, Polverino M, Sabato E, Crescimanno G, Ceriana P, Antonaglia C, Siciliano G, Ring N, Zacchigna S, Salton F, Vianello A, AIPO Pneumoloped Group.
    Orphanet J Rare Dis; 2019 Mar 04; 14(1):62. PubMed ID: 30832705
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  • 6. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.
    Golsari A, Nasimzadah A, Thomalla G, Keller S, Gerloff C, Magnus T.
    Neuromuscul Disord; 2018 Mar 04; 28(3):257-261. PubMed ID: 29326002
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  • 7. [Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].
    Nikitin SS, Kurbatov SA, Bredelev VA, Kovalchuk MO.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2015 Mar 04; 115(12):19-24. PubMed ID: 26978490
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  • 8. A database for screening and registering late onset Pompe disease in Turkey.
    Gokyigit MC, Ekmekci H, Durmus H, Karlı N, Koseoglu E, Aysal F, Kotan D, Ali A, Koytak PK, Karasoy H, Yaman A, Sengun İS, Sayin R, Tiftikcioglu BI, Soysal A, Tutkavul K, Bayrak AO, Kısabay A, Elci MA, Yayla V, Yılmaz İA, Ozdamar SE, Erdogan C, Tasdemir N, Serdaroglu Oflazer P, Turkish Study Group for Late Onset Pompe Disease.
    Neuromuscul Disord; 2018 Mar 04; 28(3):262-267. PubMed ID: 29395671
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  • 11. White matter lesions in treated late onset Pompe disease are not different to matched controls.
    Schneider I, Hensel O, Zierz S.
    Mol Genet Metab; 2019 Jun 04; 127(2):128-131. PubMed ID: 31153821
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  • 12. Screening for late-onset Pompe disease in Internal Medicine departments in Spain.
    López-Rodríguez M, Torralba-Cabeza MA, de Pedro IP, Rivera A, Gil RS, Gómez-Belda A, de la Peña JLP, de Los Santos Moreno A, Selva-O'Callaghan A, Gárate IG, García AG, Hurtado R, de Ureta PT, Barba-Romero MÁ, Milisenda JC, Grau-Junyent JM, POMPE study group.
    Orphanet J Rare Dis; 2023 Aug 31; 18(1):256. PubMed ID: 37653444
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  • 13. 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 31; 110(3):290-6. PubMed ID: 23916420
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  • 15. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
    Pascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, Franzese G, Panella G, Tuccillo F, la Marca G, Bernardini S, Boffo S, Giordano A, Di Iorio G, Melone MAB, Sampaolo S.
    J Cell Physiol; 2018 Aug 31; 233(8):5829-5837. PubMed ID: 29215735
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  • 16. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
    Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.
    Acta Neuropathol Commun; 2014 Jan 02; 2():2. PubMed ID: 24383498
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  • 19. Toward deconstructing the phenotype of late-onset Pompe disease.
    Schüller A, Wenninger S, Strigl-Pill N, Schoser B.
    Am J Med Genet C Semin Med Genet; 2012 Feb 15; 160C(1):80-8. PubMed ID: 22253010
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  • 20. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
    Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V.
    Neuromuscul Disord; 2018 Jul 15; 28(7):586-591. PubMed ID: 29880332
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