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8. 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; 147(1):23-35. PubMed ID: 168880 [TBL] [Abstract][Full Text] [Related]
11. Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency. Ohtani Y; Matsuda I; Iwamasa T; Tamari H; Origuchi Y; Miike T Neurology; 1982 Aug; 32(8):833-8. PubMed ID: 6285226 [TBL] [Abstract][Full Text] [Related]
12. Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX. Bashan N; Potashnik R; Ehrlich T; Moses SW J Inherit Metab Dis; 1987; 10(2):119-27. PubMed ID: 3116330 [No Abstract] [Full Text] [Related]
13. A female case of glycogen storage myopathy due to phosphorylase kinase deficiency. Ohtani Y; Matsuda I; Iwamasa T J Inherit Metab Dis; 1982; 5(2):71-2. PubMed ID: 6820425 [No Abstract] [Full Text] [Related]
14. Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency. Carrier H; Maire I; Vial C; Rambaud G; Flocard F; Flechaire A Acta Neuropathol; 1990; 81(1):84-8. PubMed ID: 2128163 [TBL] [Abstract][Full Text] [Related]
15. Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Eishi Y; Takemura T; Sone R; Yamamura H; Narisawa K; Ichinohasama R; Tanaka M; Hatakeyama S Hum Pathol; 1985 Feb; 16(2):193-7. PubMed ID: 3918928 [TBL] [Abstract][Full Text] [Related]
17. 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; 11(7):516-26. PubMed ID: 12825073 [TBL] [Abstract][Full Text] [Related]
18. Glycogen-storage disease in rats, a genetically determined deficiency of liver phosphorylase kinase. Malthus R; Clark DG; Watts C; Sneyd JG Biochem J; 1980 Apr; 188(1):99-106. PubMed ID: 6931596 [TBL] [Abstract][Full Text] [Related]
19. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Burwinkel B; Maichele AJ; Aagenaes O; Bakker HD; Lerner A; Shin YS; Strachan JA; Kilimann MW Hum Mol Genet; 1997 Jul; 6(7):1109-15. PubMed ID: 9215682 [TBL] [Abstract][Full Text] [Related]
20. Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. Migeon BR; Huijing F Am J Hum Genet; 1974 May; 26(3):360-8. PubMed ID: 4524311 [No Abstract] [Full Text] [Related] [Next] [New Search]