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Journal Abstract Search

114 related items for PubMed ID: 6294950

  • 41. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I, Teijeira S, Millán BS, Navarro C.
    Hum Genet; 2009 Apr; 125(3):343. PubMed ID: 19320018
    [No Abstract] [Full Text] [Related]

  • 42. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I, Teijeira S, Millán BS, Navarro C.
    Hum Genet; 2009 Apr; 125(3):339. PubMed ID: 19309786
    [No Abstract] [Full Text] [Related]

  • 43. Muscle accumulation of Tc-99m diphosphonate in myophosphorylase deficiency and other disorders of muscle glycogenolysis/glycolysis.
    Brumback RA.
    Clin Nucl Med; 1983 Apr; 8(4):165-6. PubMed ID: 6573990
    [No Abstract] [Full Text] [Related]

  • 44. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
    Viéitez I, Teijeira S, Otolano S, Parente P, San Millán B, Navarro C.
    Hum Genet; 2009 Apr; 125(3):352. PubMed ID: 19320040
    [No Abstract] [Full Text] [Related]

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  • 47. A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
    Deschauer M, Opalka JR, Lindner A, Zierz S.
    Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054
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  • 48. [Glycogen storage disease associated with glycogen deposition in skeletal and heart muscles with low muscle phosphorylase activity].
    Uchida T, Kodama A, Takezawa M, Kijima M, Miyazaki Y, Yui T, Ono K, Ohwada K, Kariyone S.
    Nihon Naika Gakkai Zasshi; 1985 Jul; 74(7):945-51. PubMed ID: 3863867
    [No Abstract] [Full Text] [Related]

  • 49. [Glycogenosis caused by deficiency of hepatic phosphorylase].
    LAMY M, DUBOIS R, ROSSIER A, FREZAL J, LOEB H, BLANCHER G.
    Arch Fr Pediatr; 1960 Jul; 17():14-37. PubMed ID: 14413726
    [No Abstract] [Full Text] [Related]

  • 50. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
    Shin YS.
    Semin Pediatr Neurol; 2006 Jun; 13(2):115-20. PubMed ID: 17027861
    [Abstract] [Full Text] [Related]

  • 51. Late-onset McArdle's disease mimicking treatment-resistant polymyositis. Report of a case and review of the literature.
    Pego R, González-Gay MA, García-Porrúa C, Brañas F, Navarro C.
    Rev Rhum Engl Ed; 1999 Apr; 66(4):236-7. PubMed ID: 10339783
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  • 53. [Hypoglycemia. 3. Hypoglycemias caused by defined metabolic defects; hormonal regulation of blood glucose concentration and its disorders].
    Förster H.
    Fortschr Med; 1976 Feb 12; 94(5):269-76. PubMed ID: 176098
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  • 55. [McArdle's disease. Apropos of a case].
    Yuste JR, Beloqui O, De la Peña A, Rodríguez-Rosado R, Monreal JI, Prósper F, Prieto J.
    Rev Med Univ Navarra; 1998 Feb 12; 42(1):29-33. PubMed ID: 10420954
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  • 58. Molecular diagnosis of McArdle disease: revised genomic structure of the myophosphorylase gene and identification of a novel mutation.
    Kubisch C, Wicklein EM, Jentsch TJ.
    Hum Mutat; 1998 Feb 12; 12(1):27-32. PubMed ID: 9633816
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  • 60. Histochemical and biochemical studies in a patient with myophosphorylase deficiency.
    Tachi N, Sasaki K, Tachi M, Sugie H.
    Eur Neurol; 1990 Feb 12; 30(1):52-5. PubMed ID: 2298228
    [Abstract] [Full Text] [Related]

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