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Journal Abstract Search

296 related items for PubMed ID: 28763149

  • 21. Diagnosing lysosomal storage disorders: Pompe disease.
    Bodamer OA, Dajnoki A.
    Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
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  • 22. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
    Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB.
    Mol Genet Metab; 2023 Oct; 140(1-2):107633. PubMed ID: 37414610
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  • 23. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.
    Gene; 2014 Mar 01; 537(1):41-5. PubMed ID: 24384324
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  • 24. 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 01; 28(7):586-591. PubMed ID: 29880332
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  • 25. A Race Against Time-Changing the Natural History of CRIM Negative Infantile Pompe Disease.
    Gupta P, Shayota BJ, Desai AK, Kiblawi F, Myridakis D, Messina J, Tah P, Tambini-King L, Kishnani PS.
    Front Immunol; 2020 Jul 01; 11():1929. PubMed ID: 33013846
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  • 26. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
    Burton BK, Kronn DF, Hwu WL, Kishnani PS, Pompe Disease Newborn Screening Working Group.
    Pediatrics; 2017 Jul 01; 140(Suppl 1):S14-S23. PubMed ID: 29162674
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  • 27. Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
    Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.
    Orphanet J Rare Dis; 2013 Oct 10; 8():159. PubMed ID: 24107549
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  • 28. Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
    Verloes A, Massin M, Lombet J, Grattagliano B, Soyeur D, Rigo J, Koulischer L, Van Hoof F.
    Am J Med Genet; 1997 Oct 17; 72(2):135-42. PubMed ID: 9382133
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  • 34. Infantile-onset Pompe disease with neonatal debut: A case report and literature review.
    Martínez M, Romero MG, Guereta LG, Cabrera M, Regojo RM, Albajara L, Couce ML, Pipaon MS.
    Medicine (Baltimore); 2017 Dec 17; 96(51):e9186. PubMed ID: 29390460
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  • 38. Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
    Alila-Fersi O, Aloulou H, Werteni I, Mahfoudh N, Chabchoub I, Kammoun H, Keskes L, Hachicha M, Belguith N, Fakhfakh F.
    J Mol Neurosci; 2020 Jul 17; 70(7):1100-1109. PubMed ID: 32125626
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  • 40. 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 17; 55(6):835-840. PubMed ID: 27649523
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