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Journal Abstract Search

141 related items for PubMed ID: 7994992

  • 41. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.
    Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.
    Mol Ther; 2005 Jan; 11(1):48-56. PubMed ID: 15585405
    [Abstract] [Full Text] [Related]

  • 42. [A retrospective study of six patients with late-onset Pompe disease].
    Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.
    Rev Neurol (Paris); 2008 Apr; 164(4):336-42. PubMed ID: 18439925
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  • 43. 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
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  • 44. Autophagic vacuolar myopathy.
    Nishino I.
    Semin Pediatr Neurol; 2006 Jun; 13(2):90-5. PubMed ID: 17027858
    [Abstract] [Full Text] [Related]

  • 45. [Acid maltase deficiency myopathy infantile and adult forms (author's transl)].
    Saenz Lope E, Cocero Oviedo E, Ricoy Campo JR, Benlloch T.
    Arch Neurobiol (Madr); 1981 Jun; 44(1):49-62. PubMed ID: 6784694
    [No Abstract] [Full Text] [Related]

  • 46. Immunocytochemical analysis of normal and acid maltase-deficient muscle cultures.
    Miranda AF, Shanske S, Hays AP, DiMauro S.
    Arch Neurol; 1985 Apr; 42(4):371-3. PubMed ID: 3921010
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  • 47. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
    van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA.
    Acta Neurol Belg; 2006 Jun; 106(2):82-6. PubMed ID: 16898258
    [Abstract] [Full Text] [Related]

  • 48. Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.
    di Fiore MT, Manfredi R, Marri L, Zucchini A, Azzaroli L, Manfredi G.
    Acta Neurol (Napoli); 1993 Aug; 15(4):258-67. PubMed ID: 8249669
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  • 50. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
    Chamoles NA, Niizawa G, Blanco M, Gaggioli D, Casentini C.
    Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146
    [Abstract] [Full Text] [Related]

  • 51. Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.
    McVie-Wylie AJ, Ding EY, Lawson T, Serra D, Migone FK, Pressley D, Mizutani M, Kikuchi T, Chen YT, Amalfitano A.
    J Gene Med; 2003 May; 5(5):399-406. PubMed ID: 12731088
    [Abstract] [Full Text] [Related]

  • 52. Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients.
    Nicolino M, Puech JP, Letourneur F, Fardeau M, Kahn A, Poenaru L.
    Biochem Biophys Res Commun; 1997 Jun 09; 235(1):138-41. PubMed ID: 9196050
    [Abstract] [Full Text] [Related]

  • 53. The constellation of adult acid maltase deficiency: clinical, electrophysiologic, and morphologic features.
    McComas CF, Schochet SS, Morris HH, Romansky SG, Gutmann L.
    Clin Neuropathol; 1983 Jun 09; 2(4):182-7. PubMed ID: 6418427
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  • 56. [A study of the abnormal polysaccharide in a child with type IV glycogen storage disease (author's transl)].
    Scotto JM, de Barsy T, Hadchouel M, Bernard O.
    Arch Fr Pediatr; 1981 Dec 09; 38 Suppl 1():837-41. PubMed ID: 6949501
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  • 58. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].
    Merkli H, Pál E, Nagy F, Horváth R, Várdi VK, Komoly S, Illés Z.
    Orv Hetil; 2006 Jul 30; 147(30):1421-4. PubMed ID: 16977780
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  • 60. Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation.
    Pascual JM, Roe CR.
    JAMA Neurol; 2013 Jun 30; 70(6):756-63. PubMed ID: 23609947
    [Abstract] [Full Text] [Related]

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