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3. [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; 91(10):667-9. PubMed ID: 9019646 [No Abstract] [Full Text] [Related]
4. Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Ørngreen MC; Schelhaas HJ; Jeppesen TD; Akman HO; Wevers RA; Andersen ST; ter Laak HJ; van Diggelen OP; DiMauro S; Vissing J Neurology; 2008 May; 70(20):1876-82. PubMed ID: 18401027 [TBL] [Abstract][Full Text] [Related]
5. [Differential diagnosis of glycogenoses]. Rozenfel'd EL; Popova IA Arkh Patol; 1980; 42(12):61-71. PubMed ID: 7011274 [TBL] [Abstract][Full Text] [Related]
6. Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency). Fukao T; Zhang G; Aoki Y; Arai T; Teramoto T; Kaneko H; Sugie H; Kondo N Mol Genet Metab; 2007; 92(1-2):179-82. PubMed ID: 17581768 [TBL] [Abstract][Full Text] [Related]
7. Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency. Haller RG Neurology; 2008 May; 70(20):1872-3. PubMed ID: 18474841 [No Abstract] [Full Text] [Related]
8. Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay. Besley GT J Inherit Metab Dis; 1987; 10(2):115-8. PubMed ID: 3116329 [No Abstract] [Full Text] [Related]
9. [Study of molecular-kinetic properties and characteristics of the activation of glycogen phosphorylase b from skeletal muscles of the frog Rana temporaria]. Serebrenikova TP; Shmelev VK; Nesterov VP Zh Evol Biokhim Fiziol; 1998; 34(3):319-24. PubMed ID: 9783380 [No Abstract] [Full Text] [Related]
10. [A case of glycogen storage disease type VIII found at the age of 62]. Tsukashima A; Tsuji H; Kajiwara E; Watanabe H; Okuda S; Akagi K; Fujishima M Nihon Shokakibyo Gakkai Zasshi; 1988 Aug; 85(8):1551-4. PubMed ID: 3054209 [No Abstract] [Full Text] [Related]
11. [The pre- and posttranslational regulation of the enzymes participating in glycogen phosphorolysis]. Parsadanian GK; Marchenko SN Tsitol Genet; 1993; 27(6):64-78. PubMed ID: 8066810 [TBL] [Abstract][Full Text] [Related]
12. Kinetics of the interaction of rabbit skeletal muscle phosphorylase kinase with glycogen. Andreeva IE; Makeeva VF; Kurganov BI; Chebotareva NA; Livanova NB Biochemistry (Mosc); 1999 Feb; 64(2):159-68. PubMed ID: 10187906 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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 [No Abstract] [Full Text] [Related]
20. Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency. Willems P Clin Genet; 1990 Jul; 38(1):80. PubMed ID: 2387090 [No Abstract] [Full Text] [Related] [Next] [New Search]