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Journal Abstract Search

141 related items for PubMed ID: 7994992

  • 21. [A case of acid maltase deficiency (juvenile type)--immunohistochemical and biochemical study].
    Yamazaki M, Shintani M, Shimizu J, Kawai M, Kanazawa I.
    Rinsho Shinkeigaku; 1992 Nov; 32(11):1266-71. PubMed ID: 1301330
    [Abstract] [Full Text] [Related]

  • 22. Glycogen storage disease. Studies related to the mechanism of glycogenosome formation.
    Iwamasa T, Ninomiya N, Fukuda S, Hamada T, Hirashima M, Osame M.
    Pathol Res Pract; 1983 Mar; 176(2-4):236-52. PubMed ID: 6304667
    [Abstract] [Full Text] [Related]

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

  • 24. [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; 22(1):57-65. PubMed ID: 6807597
    [No Abstract] [Full Text] [Related]

  • 25. Infantile acid maltase deficiency. III. Ultrastructure of metachromatic material and glycogen in muscle fibers.
    Griffin JL.
    Virchows Arch B Cell Pathol Incl Mol Pathol; 1984 Jan; 45(1):51-61. PubMed ID: 6199887
    [Abstract] [Full Text] [Related]

  • 26. Acid maltase deficiency in adults. A study of five cases.
    Lenders MB, Martin JJ, de Barsy T, Ceuterick C, Marchau M.
    Acta Neurol Belg; 1986 Jan; 86(3):152-60. PubMed ID: 3090848
    [Abstract] [Full Text] [Related]

  • 27. [Morphological and clinical aspects of Danon disease].
    Fidziańska A, Walczak E, Walski M, Wiśniewska E, Wagner T, Kuch M.
    Kardiol Pol; 2008 Mar; 66(3):302-6. PubMed ID: 18393115
    [Abstract] [Full Text] [Related]

  • 28. [Myopathy caused by acid maltase deficiency in an adult].
    Cartier L, Cea JG, Slachevsky A.
    Rev Med Chil; 1995 Jun; 123(6):758-61. PubMed ID: 8525231
    [Abstract] [Full Text] [Related]

  • 29. 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 Jun; 306():163-71. PubMed ID: 2500669
    [No Abstract] [Full Text] [Related]

  • 30. The pattern of involvement of adult-onset acid maltase deficiency at autopsy.
    van der Walt JD, Swash M, Leake J, Cox EL.
    Muscle Nerve; 1987 Jun; 10(3):272-81. PubMed ID: 2951596
    [Abstract] [Full Text] [Related]

  • 31. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
    Kikuchi T, Yang HW, Pennybacker M, Ichihara N, Mizutani M, Van Hove JL, Chen YT.
    J Clin Invest; 1998 Feb 15; 101(4):827-33. PubMed ID: 9466978
    [Abstract] [Full Text] [Related]

  • 32. Autophagic vacuolar myopathy in twin girls.
    Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A.
    Neuropathol Appl Neurobiol; 2006 Jun 15; 32(3):253-9. PubMed ID: 16640643
    [Abstract] [Full Text] [Related]

  • 33. Lysosomal glycogen storage with normal acid maltase: a familial study with successful heart transplant.
    Dworzak F, Casazza F, Mora M, De Maria R, Gronda E, Baroldi G, Rimoldi M, Morandi L, Cornelio F.
    Neuromuscul Disord; 1994 May 15; 4(3):243-7. PubMed ID: 7919972
    [Abstract] [Full Text] [Related]

  • 34. Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head.
    Kashio N, Usuki F, Akamine T, Nakagawa S, Higuchi I, Nakahara K, Okada A, Osame M, Murata F.
    J Neurol Sci; 1991 Sep 15; 105(1):1-5. PubMed ID: 1795162
    [Abstract] [Full Text] [Related]

  • 35. Glycogen storage myopathy with abnormal lactate dehydrogenase.
    Nagata N, Miike T, Matsuda I, Shikama H, Tokumitsu Y, Ui M.
    Neuropediatrics; 1982 May 15; 13(2):103-7. PubMed ID: 6957732
    [Abstract] [Full Text] [Related]

  • 36. Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.
    Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C.
    Neuropediatrics; 2005 Oct 15; 36(5):309-13. PubMed ID: 16217705
    [Abstract] [Full Text] [Related]

  • 37. Danon disease: an unusual presentation of autism.
    Burusnukul P, de Los Reyes EC, Yinger J, Boué DR.
    Pediatr Neurol; 2008 Jul 15; 39(1):52-4. PubMed ID: 18555174
    [Abstract] [Full Text] [Related]

  • 38. [Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)].
    Usuki F.
    Ryoikibetsu Shokogun Shirizu; 1998 Jul 15; (19 Pt 2):353-5. PubMed ID: 9645081
    [No Abstract] [Full Text] [Related]

  • 39. A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon disease.
    Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.
    Muscle Nerve; 2010 Jun 15; 41(6):879-82. PubMed ID: 20513107
    [Abstract] [Full Text] [Related]

  • 40. Adult acid maltase deficiency.
    Barohn RJ, McVey AL, DiMauro S.
    Muscle Nerve; 1993 Jun 15; 16(6):672-6. PubMed ID: 8502265
    [Abstract] [Full Text] [Related]

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