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Journal Abstract Search

141 related items for PubMed ID: 7994992

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  • 4. [Lysosomal glycogen storage disease without acid maltase deficiency].
    Usuki F, Osame M.
    Nihon Rinsho; 1995 Dec; 53(12):3050-4. PubMed ID: 8577057
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  • 5. Vacuolar myopathy with type 2 A fiber atrophy and type 2 B fiber deficiency. A case of childhood form acid alpha-1,4-glucosidase deficiency.
    Matsuishi T, Terasawa K, Yoshida I, Yano E, Yamashita F, Hidaka T, Ishihara O, Yoshino M, Nonaka I, Kurokawa T, Nakamura Y.
    Neuropediatrics; 1982 Nov; 13(4):173-6. PubMed ID: 6818487
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  • 6. Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles.
    Tachi N, Tachi M, Sasaki K, Tomita H, Wakai S, Annaka S, Minami R, Tsurui S, Sugie H.
    Pediatr Neurol; 1989 Nov; 5(1):60-3. PubMed ID: 2496694
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  • 7. 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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  • 8. [A patient with lysosomal glycogen storage disease with normal acid maltase].
    Itoh M, Asano Y, Shimohira M, Iwakawa Y, Goto Y, Nonaka I.
    No To Hattatsu; 1993 Sep 17; 25(5):459-64. PubMed ID: 8398237
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  • 9. [Cardiomuscular lysosomal glycogenosis in adults without known enzyme deficiency. A cause of familial myocardiopathy and lysosomal glycogen overload with normal acid maltase].
    Bru P, Pellissier JF, Gatau-Pelanchon J, Faugère G, de Barsy T, Levy S, Gérard R.
    Arch Mal Coeur Vaiss; 1988 Jan 17; 81(1):109-14. PubMed ID: 3130016
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  • 10. [A 21-year-old man with distal dominant progressive muscle atrophy].
    Hattori Y, Nohara C, Hirasawa E, Mori H, Imai H, Mizuno Y.
    No To Shinkei; 1995 May 17; 47(5):509-18. PubMed ID: 7786629
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  • 11. Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency.
    Lin CY, Ho CH, Hsieh YH, Kikuchi T.
    Gene Ther; 2002 May 17; 9(9):554-63. PubMed ID: 11973631
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  • 12. [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
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  • 13. Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency).
    Usuki F, Takenaga S, Higuchi I, Kashio N, Nakagawa M, Osame M.
    J Neurol Sci; 1994 Dec 01; 127(1):54-60. PubMed ID: 7699392
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  • 14. Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle.
    Askanas V, Engel WK, DiMauro S, Brooks BR, Mehler M.
    N Engl J Med; 1976 Mar 11; 294(11):573-8. PubMed ID: 1060914
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  • 15. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
    Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
    Nature; 2000 Aug 24; 406(6798):906-10. PubMed ID: 10972294
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  • 16. [Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)].
    Ohno K.
    Ryoikibetsu Shokogun Shirizu; 2000 Aug 24; (29 Pt 4):491-2. PubMed ID: 11032005
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  • 17. 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 Aug 24; 28(3):245-55. PubMed ID: 6440527
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  • 18. [A case of glycogen storage myopathy with acute heart failure].
    Nakamura Y, Takahashi M, Maeda M, Yamada Y, Kono N.
    Rinsho Shinkeigaku; 1990 May 24; 30(5):524-8. PubMed ID: 2205434
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