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Journal Abstract Search

133 related items for PubMed ID: 7919972

  • 21. Lysosomal glycogen storage disease without acid maltase deficiency.
    Riggs JE, Schochet SS, Gutmann L, Shanske S, Neal WA, DiMauro S.
    Neurology; 1983 Jul; 33(7):873-7. PubMed ID: 6408499
    [Abstract] [Full Text] [Related]

  • 22. Juvenile-onset acid maltase deficiency with unusual familial features.
    Danon MJ, DiMauro S, Shanske S, Archer FL, Miranda AF.
    Neurology; 1986 Jun; 36(6):818-22. PubMed ID: 3084996
    [Abstract] [Full Text] [Related]

  • 23. Receptor-mediated uptake of acid alpha-glucosidase corrects lysosomal glycogen storage in cultured skeletal muscle.
    Van der Ploeg AT, Loonen MC, Bolhuis PA, Busch HM, Reuser AJ, Galjaard H.
    Pediatr Res; 1988 Jul; 24(1):90-4. PubMed ID: 2970619
    [Abstract] [Full Text] [Related]

  • 24. Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase.
    Ullrich K, von Bassewitz D, Shin J, Korinthenberg R, Sewell S, von Figura K.
    Prog Clin Biol Res; 1989 Jul; 306():163-71. PubMed ID: 2500669
    [No Abstract] [Full Text] [Related]

  • 25. A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.
    Loonen MC, Busch HF, Koster JF, Martin JJ, Niermeijer MF, Schram AW, Brouwer-Kelder B, Mekes W, Slee RG, Tager JM.
    Neurology; 1981 Oct; 31(10):1209-16. PubMed ID: 6810200
    [Abstract] [Full Text] [Related]

  • 26. Demonstration of acid maltase protein in Pompe disease by use of immunohistochemical and enzyme immunoassay methods.
    Ninomiya N, Iwamasa T, Matsuda I, Nonaka I.
    J Inherit Metab Dis; 1983 Oct; 6(3):131-2. PubMed ID: 6422147
    [No Abstract] [Full Text] [Related]

  • 27. [Glycogenosis caused by amylo-1,6-glucosidase deficiency. Myopathy as a lead finding in adults].
    Bröker HJ, Kuhn E, Fiehn W, Assmus H, Schröder JM.
    Schweiz Med Wochenschr; 1981 Jun 06; 111(23):854-8. PubMed ID: 6791275
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. Infantile acid maltase deficiency. I. Muscle fiber destruction after lysosomal rupture.
    Griffin JL.
    Virchows Arch B Cell Pathol Incl Mol Pathol; 1984 Mar 01; 45(1):23-36. PubMed ID: 6199885
    [Abstract] [Full Text] [Related]

  • 30. [Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase].
    Matsumoto S, Yamada T, Tanaka K, Hara H, Nonaka I, Uchida T, Miyagi Y, Fukutomi T, Kira J.
    Rinsho Shinkeigaku; 1999 Jul 01; 39(7):717-21. PubMed ID: 10548908
    [Abstract] [Full Text] [Related]

  • 31. Lysosomal storage in human skeletal muscle.
    Carpenter S, Karpati G.
    Hum Pathol; 1986 Jul 01; 17(7):683-703. PubMed ID: 3087857
    [Abstract] [Full Text] [Related]

  • 32.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 33. [Muscle type acid maltase deficiency. An intermediate case between childhood type and adult type (author's transl)].
    Nakagawa M, Nakazato O, Osame M, Nakashima H, Igata A.
    Rinsho Shinkeigaku; 1982 Jan 01; 22(1):57-65. PubMed ID: 6807597
    [No Abstract] [Full Text] [Related]

  • 34. Infantile acid maltase deficiency. II. Muscle fiber hypertrophy and the ultrastructure of end-stage fibers.
    Griffin JL.
    Virchows Arch B Cell Pathol Incl Mol Pathol; 1984 Jan 01; 45(1):37-50. PubMed ID: 6199886
    [Abstract] [Full Text] [Related]

  • 35. Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family.
    Swash M, Schwartz MS, Apps MC.
    J Neurol Sci; 1985 Apr 01; 68(1):61-74. PubMed ID: 3921668
    [Abstract] [Full Text] [Related]

  • 36. Adult-onset acid maltase deficiency: a postmortem study.
    DiMauro S, Stern LZ, Mehler M, Nagle RB, Payne C.
    Muscle Nerve; 1978 Apr 01; 1(1):27-36. PubMed ID: 377069
    [Abstract] [Full Text] [Related]

  • 37. Clinicopathological features of genetically confirmed Danon disease.
    Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I.
    Neurology; 2002 Jun 25; 58(12):1773-8. PubMed ID: 12084876
    [Abstract] [Full Text] [Related]

  • 38. Acid maltase deficiency in adults. Clinical, morphological and biochemical study of three patients.
    Bertagnolio B, Di Donato S, Peluchetti D, Rimoldi M, Storchi G, Cornelio F.
    Eur Neurol; 1978 Jun 25; 17(4):193-204. PubMed ID: 357152
    [Abstract] [Full Text] [Related]

  • 39. Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.
    Meola G, Scarpini E, Manfredi L, Velicogna M, Pellegrini G, Redi CA, Scarlato G.
    Basic Appl Histochem; 1984 Jun 25; 28(3):245-55. PubMed ID: 6440527
    [Abstract] [Full Text] [Related]

  • 40. Immunocytochemical analysis of normal and acid maltase-deficient muscle cultures.
    Miranda AF, Shanske S, Hays AP, DiMauro S.
    Arch Neurol; 1985 Apr 25; 42(4):371-3. PubMed ID: 3921010
    [Abstract] [Full Text] [Related]

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