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Journal Abstract Search

142 related items for PubMed ID: 280544

  • 1. Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys.
    Garibaldi LR, Borrone C, de Martini I, Battistini E.
    Helv Paediatr Acta; 1978 Nov; 33(4-5):435-41. PubMed ID: 280544
    [Abstract] [Full Text] [Related]

  • 2. Liver phosphorylase deficiency in glycogenosis type VI: documentation by biochemical analysis of hepatic biopsy specimens.
    Hug G, Chuck G, Walling L, Schubert WK.
    J Lab Clin Med; 1974 Jul; 84(1):26-35. PubMed ID: 4525529
    [No Abstract] [Full Text] [Related]

  • 3. Glycogenosis due to liver and muscle phosphorylase kinase deficiency.
    Bashan N, Iancu TC, Lerner A, Fraser D, Potashnik R, Moses SW.
    Pediatr Res; 1981 Apr; 15(4 Pt 1):299-303. PubMed ID: 6938920
    [Abstract] [Full Text] [Related]

  • 4. [Glycogenosis due to a defect of liver phosphorylase-kinase (glycogenosis type IX). A clinical, biochemical, and electron-microscopy study].
    Mardesić D, Jadro-Santel D, Crnojević-Ivanusić R, Lipovac K, Juretić D.
    Acta Med Iugosl; 1978 Apr; 32(1):75-91. PubMed ID: 274067
    [No Abstract] [Full Text] [Related]

  • 5. Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.
    Baussan C, Moatti N, Odievre M, Lemonnier A.
    Pediatrics; 1981 Jan; 67(1):107-12. PubMed ID: 6787554
    [Abstract] [Full Text] [Related]

  • 6. [Treatment of glycogenosis type III with total parenteral nutrition, continuous intragastric infusion and D-thyroxine].
    Böhles H, Dick W, Scharf J.
    Infusionsther Klin Ernahr; 1982 Aug; 9(4):160-1. PubMed ID: 6813261
    [Abstract] [Full Text] [Related]

  • 7. [Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood].
    Müller P, Bührdel P, Freidt B, Böhme HJ.
    Med Klin (Munich); 1996 Oct 15; 91(10):667-9. PubMed ID: 9019646
    [No Abstract] [Full Text] [Related]

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  • 9. Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
    Lederer B, Van Hoof F, Van den Berghe G, Hers H.
    Biochem J; 1975 Apr 15; 147(1):23-35. PubMed ID: 168880
    [Abstract] [Full Text] [Related]

  • 10. Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.
    Hug G, Schubert WK, Chuck G.
    J Clin Invest; 1969 Apr 15; 48(4):704-15. PubMed ID: 5774108
    [Abstract] [Full Text] [Related]

  • 11. The behavior of hepatic phosphorylase b kinase, phosphorylase a and b after administration of glucagon to patients with glycogen storage disease type VIa.
    Pieniazek D, Pronicka E, Pawłowska J.
    Horm Metab Res; 1986 Aug 15; 18(8):546-50. PubMed ID: 3093350
    [Abstract] [Full Text] [Related]

  • 12. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
    Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.
    Eur J Hum Genet; 2003 Jul 15; 11(7):516-26. PubMed ID: 12825073
    [Abstract] [Full Text] [Related]

  • 13. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
    Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW.
    Nat Genet; 1996 Nov 15; 14(3):337-40. PubMed ID: 8896567
    [Abstract] [Full Text] [Related]

  • 14. Glycogen storage diseases.
    Hug G.
    Birth Defects Orig Artic Ser; 1976 Nov 15; 12(6):145-75. PubMed ID: 788807
    [Abstract] [Full Text] [Related]

  • 15. [Glycogenosis type VI and VIa--biochemical and clinical documentation].
    Pieniazek D, Pronicka E, Cabalska B, Borowska B, Miłoszewska E, Maciejko D, Kulczycka H, Prokopowicz K.
    Pediatr Pol; 1985 Jul 15; 60(7):489-96. PubMed ID: 3938009
    [No Abstract] [Full Text] [Related]

  • 16. The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.
    Willems PJ, Gerver WJ, Berger R, Fernandes J.
    Eur J Pediatr; 1990 Jan 15; 149(4):268-71. PubMed ID: 2303074
    [Abstract] [Full Text] [Related]

  • 17. Liver glycogenosis. A biochemical and ultrastructural study.
    De Bruijn WC, Fernandes J, Huber J, Koster JF.
    Pathol Eur; 1975 Jan 15; 10(1):3-15. PubMed ID: 170575
    [No Abstract] [Full Text] [Related]

  • 18. Nutritional therapy for glycogen storage diseases.
    Heller S, Worona L, Consuelo A.
    J Pediatr Gastroenterol Nutr; 2008 Aug 15; 47 Suppl 1():S15-21. PubMed ID: 18667910
    [Abstract] [Full Text] [Related]

  • 19. Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene.
    Waheed N, Saeed A, Ijaz S, Fayyaz Z, Anjum MN, Zahoor Y, Cheema HA.
    J Pediatr Endocrinol Metab; 2020 Sep 25; 33(9):1117-1123. PubMed ID: 32697758
    [Abstract] [Full Text] [Related]

  • 20. Glycogen storage disease type IX: High variability in clinical phenotype.
    Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M.
    Mol Genet Metab; 2007 Sep 25; 92(1-2):88-99. PubMed ID: 17689125
    [Abstract] [Full Text] [Related]

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