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Journal Abstract Search

163 related items for PubMed ID: 9554747

  • 21. Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
    Xu F, Ding E, Migone F, Serra D, Schneider A, Chen YT, Amalfitano A.
    J Gene Med; 2005 Feb; 7(2):171-8. PubMed ID: 15515143
    [Abstract] [Full Text] [Related]

  • 22. [Pompe's disease--acid alpha-glucosidase deficiency--a review].
    Iwamasa T, Chinen K, Hirayasu T.
    Nihon Rinsho; 1993 Sep; 51(9):2324-9. PubMed ID: 8411709
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  • 24. Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
    Huie ML, Kasper JS, Arn PH, Greenberg CR, Hirschhorn R.
    Am J Med Genet; 1999 Jul 02; 85(1):5-8. PubMed ID: 10377006
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  • 26. [Late infantile form of Pompe's disease. Deficiency of alpha-1,4-glucosidase (acid maltase)].
    Colomer J, Roig M, Campistol J, Rullan G, Fernández-Alvarez E.
    An Esp Pediatr; 1984 Sep 15; 21(3):250-9. PubMed ID: 6391315
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  • 27. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
    Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.
    Clin Genet; 2004 Jun 15; 65(6):487-9. PubMed ID: 15151508
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  • 28. Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.
    Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT.
    Muscle Nerve; 2003 Jun 15; 27(6):743-51. PubMed ID: 12766987
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  • 30. Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
    Chen CP, Lin SP, Tzen CY, Tsai FJ, Hwu WL, Wang W.
    Prenat Diagn; 2004 Mar 15; 24(3):231-2. PubMed ID: 15057961
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  • 31. A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
    Dou W, Peng C, Zheng J, Gu X, Fu L, Martiniuk F, Sheng HZ.
    Clin Chim Acta; 2006 Dec 15; 374(1-2):145-6. PubMed ID: 16782080
    [No Abstract] [Full Text] [Related]

  • 32. Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing.
    Hermans MM, van Leenen D, Kroos MA, Reuser AJ.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):414-8. PubMed ID: 9425285
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  • 33. [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
    Qiu JJ, Wei M, Zhang WM, Shi HP.
    Zhonghua Er Ke Za Zhi; 2007 Oct 18; 45(10):760-4. PubMed ID: 18211760
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  • 34. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
    Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.
    Neuromuscul Disord; 2007 Jan 18; 17(1):16-22. PubMed ID: 17056254
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  • 35. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
    Sun B, Zhang H, Franco LM, Young SP, Schneider A, Bird A, Amalfitano A, Chen YT, Koeberl DD.
    Mol Ther; 2005 Jan 18; 11(1):57-65. PubMed ID: 15585406
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  • 36. Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
    Aykut A, Onay H, Kose M, Erbas Canda E, Karaca E, Coker M, Ozkinay F.
    J Pediatr Endocrinol Metab; 2014 Nov 18; 27(11-12):1265-7. PubMed ID: 25026126
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  • 37. Stabilising normal and mis-sense variant alpha-glucosidase.
    Kakavanos R, Hopwood JJ, Lang D, Meikle PJ, Brooks DA.
    FEBS Lett; 2006 Aug 07; 580(18):4365-70. PubMed ID: 16846599
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  • 38. [Pompe's disease. Part I: pathogenesis and clinical features].
    Illés Z, Trauninger A.
    Ideggyogy Sz; 2009 Jul 30; 62(7-8):231-43. PubMed ID: 19685701
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  • 39. Biochemical genetics of glycogenosis type II in Brahman cattle.
    Wisselaar HA, Hermans MM, Visser WJ, Kroos MA, Oostra BA, Aspden W, Harrison B, Hetzel DJ, Reuser AJ, Drinkwater RD.
    Biochem Biophys Res Commun; 1993 Feb 15; 190(3):941-7. PubMed ID: 8439343
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  • 40. Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
    Kleijer WJ, van der Kraan M, Kroos MA, Groener JE, van Diggelen OP, Reuser AJ, van der Ploeg AT.
    Pediatr Res; 1995 Jul 15; 38(1):103-6. PubMed ID: 7478785
    [Abstract] [Full Text] [Related]

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