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283 related items for PubMed ID: 8613547

  • 1. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
    Bao Y, Kishnani P, Wu JY, Chen YT.
    J Clin Invest; 1996 Feb 15; 97(4):941-8. PubMed ID: 8613547
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  • 3. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).
    Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C.
    Neurology; 2004 Sep 28; 63(6):1053-8. PubMed ID: 15452297
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  • 4. A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.
    Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS.
    Mol Genet Metab; 2007 Apr 28; 90(4):383-92. PubMed ID: 17257876
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  • 5. Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
    Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS.
    J Inherit Metab Dis; 2010 Dec 28; 33 Suppl 3():S83-90. PubMed ID: 20058079
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  • 8. Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
    Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC.
    J Child Neurol; 2012 Feb 28; 27(2):204-8. PubMed ID: 21917543
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  • 9. Prenatal diagnosis of glycogen storage disease type IV.
    Akman HO, Karadimas C, Gyftodimou Y, Grigoriadou M, Kokotas H, Konstantinidou A, Anninos H, Patsouris E, Thaker HM, Kaplan JB, Besharat I, Hatzikonstantinou K, Fotopoulos S, Dimauro S, Petersen MB.
    Prenat Diagn; 2006 Oct 28; 26(10):951-5. PubMed ID: 16874838
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  • 11. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.
    Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V.
    Ann Neurol; 1998 Dec 28; 44(6):867-72. PubMed ID: 9851430
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  • 12. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
    Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ.
    Hum Pathol; 2012 Jun 28; 43(6):943-51. PubMed ID: 22305237
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  • 13. Neuromuscular forms of glycogen branching enzyme deficiency.
    Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.
    Acta Myol; 2007 Jul 28; 26(1):75-8. PubMed ID: 17915577
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  • 14. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.
    Das BB, Narkewicz MR, Sokol RJ, Chen YT, Bali D, Li SC, Matthews MR, Mierau GW, Ivy DD.
    Pediatr Transplant; 2005 Apr 28; 9(2):261-5. PubMed ID: 15787805
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  • 15. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
    Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M.
    Ann Neurol; 2000 Apr 28; 47(4):536-40. PubMed ID: 10762170
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  • 16. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
    Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT.
    J Clin Invest; 1996 Jul 15; 98(2):352-7. PubMed ID: 8755644
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  • 17. Non-lethal congenital hypotonia due to glycogen storage disease type IV.
    Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT.
    Am J Med Genet A; 2006 Apr 15; 140(8):878-82. PubMed ID: 16528737
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  • 18. Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
    Yi H, Zhang Q, Brooks ED, Yang C, Thurberg BL, Kishnani PS, Sun B.
    Hum Gene Ther; 2017 Mar 15; 28(3):286-294. PubMed ID: 27832700
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