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Journal Abstract Search

771 related items for PubMed ID: 6817693

  • 1. Laboratory diagnosis of the neuromuscular glycogen storage diseases.
    Farmer PM.
    Ann Clin Lab Sci; 1982; 12(6):431-8. PubMed ID: 6817693
    [Abstract] [Full Text] [Related]

  • 2. [Differential diagnosis of glycogenoses].
    Rozenfel'd EL, Popova IA.
    Arkh Patol; 1980; 42(12):61-71. PubMed ID: 7011274
    [Abstract] [Full Text] [Related]

  • 3. [Glycogen storage disease].
    Kono N, Tarui S.
    Nihon Rinsho; 1990 Jul; 48(7):1504-9. PubMed ID: 2402067
    [No Abstract] [Full Text] [Related]

  • 4. Acid maltase deficiency and related myopathies.
    Amato AA.
    Neurol Clin; 2000 Feb; 18(1):151-65. PubMed ID: 10658172
    [Abstract] [Full Text] [Related]

  • 5. Glycogen-storage diseases of muscle: genetic problems.
    Rowland LP, DiMauro S.
    Res Publ Assoc Res Nerv Ment Dis; 1983 Feb; 60():239-54. PubMed ID: 6337394
    [No Abstract] [Full Text] [Related]

  • 6. [Nation-wide survey on muscle glycogen storage disease (MGSDs) and comparison with our experiences in diagnosis of MGSDs].
    Fukuda T, Sugie H, Ito M, Sugie Y, Saito K, Nishino I, Shimizu T.
    Rinsho Shinkeigaku; 2003 May; 43(5):243-8. PubMed ID: 12931628
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis in glycogen storage diseases.
    Chen YT, Bali D, Sullivan J.
    Prenat Diagn; 2002 May; 22(5):357-9. PubMed ID: 12001186
    [No Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. [Tests for the detection of inborn errors of metabolism--urinary alpha-glucosidase analysis for the detection of glycogen storage disease type II (author's transl)].
    Soyama K, Ono E.
    Rinsho Byori; 1978 Dec; 26(12):1022-6. PubMed ID: 370427
    [No Abstract] [Full Text] [Related]

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  • 11. Disorders of glycogen and lipid metabolism.
    DiMauro S, Eastwood AB.
    Adv Neurol; 1977 Dec; 17():123-42. PubMed ID: 142420
    [No Abstract] [Full Text] [Related]

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  • 14. [Hepatic forms of glycogenosis - clinical and biochemical findings in 15 cases].
    Pronicka E, Pieniazek D, Miłoszewska E, Gruszczyńska B, Moszczyńska A.
    Pediatr Pol; 1983 May; 58(5):437-45. PubMed ID: 6579490
    [No Abstract] [Full Text] [Related]

  • 15. [Laboratory diagnosis of lysosomal storage disease (glycoproteinosis Pompe's disease and Gaucher disease)].
    Shi HP, Zhang GX, Guo YF, Fang BL, Zhang WM, Chen F, Luo HY.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1985 Dec; 7(6):475-7. PubMed ID: 2940012
    [No Abstract] [Full Text] [Related]

  • 16. 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 Dec; 45(1):37-50. PubMed ID: 6199886
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  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
    Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.
    Mol Genet Metab; 2006 May 17; 88(1):22-8. PubMed ID: 16359900
    [Abstract] [Full Text] [Related]

  • 20. Acid maltase deficiency in adolescence: report of an unusual case.
    Olguntürk R, Bilgiç A, Cağlar M, Sinangil F.
    Turk J Pediatr; 1982 May 17; 24(2):115-9. PubMed ID: 6214067
    [No Abstract] [Full Text] [Related]

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