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22. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Burwinkel B; Rootwelt T; Kvittingen EA; Chakraborty PK; Kilimann MW Pediatr Res; 2003 Dec; 54(6):834-9. PubMed ID: 12930917 [TBL] [Abstract][Full Text] [Related]
23. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. Davit-Spraul A; Piraud M; Dobbelaere D; Valayannopoulos V; Labrune P; Habes D; Bernard O; Jacquemin E; Baussan C Mol Genet Metab; 2011; 104(1-2):137-43. PubMed ID: 21646031 [TBL] [Abstract][Full Text] [Related]
24. Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). Hendrickx J; Coucke P; Hors-Cayla MC; Smit GP; Shin YS; Deutsch J; Smeitink J; Berger R; Lee P; Fernandes J Genomics; 1994 Jun; 21(3):620-5. PubMed ID: 7959740 [TBL] [Abstract][Full Text] [Related]
25. Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. Bührer C; van Landeghem F; Brück W; Felderhoff-Müser U; Vorgerd M; Obladen M Neuropediatrics; 2000 Apr; 31(2):104-6. PubMed ID: 10832587 [TBL] [Abstract][Full Text] [Related]
26. [Glycogen disease caused by disorders in the liver phosphorylase system]. Chibisov IV; Rozenfel'd EL; Chistova LV; Leont'ev AF Vopr Med Khim; 1979; 25(1):47-9. PubMed ID: 284661 [TBL] [Abstract][Full Text] [Related]
27. Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. Kagalwalla AF; Kagalwalla YA; al Ajaji S; Gorka W; Ali MA J Pediatr; 1995 Oct; 127(4):602-5. PubMed ID: 7562285 [TBL] [Abstract][Full Text] [Related]
28. Adult phosphorylase b kinase deficiency. Clemens PR; Yamamoto M; Engel AG Ann Neurol; 1990 Oct; 28(4):529-38. PubMed ID: 2252364 [TBL] [Abstract][Full Text] [Related]
29. Hepatomegaly and abnormal liver tests due to glycogenosis in adults with diabetes. Chatila R; West AB Medicine (Baltimore); 1996 Nov; 75(6):327-33. PubMed ID: 8982149 [TBL] [Abstract][Full Text] [Related]
30. [Glycogenosis with cirrhosis in 2 brothers. Significance of the demonstrated enzyme defects]. Gentil C; Odievre M; Vassoyan J; Alagille D Arch Fr Pediatr; 1972 Jan; 29(1):79-97. PubMed ID: 4504126 [No Abstract] [Full Text] [Related]
31. Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Burwinkel B; Amat L; Gray RG; Matsuo N; Muroya K; Narisawa K; Sokol RJ; Vilaseca MA; Kilimann MW Hum Genet; 1998 Apr; 102(4):423-9. PubMed ID: 9600238 [TBL] [Abstract][Full Text] [Related]
32. Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. Hirono H; Hayasaka K; Sato W; Takahashi T; Takada G Biochem Mol Biol Int; 1995 Jul; 36(3):505-11. PubMed ID: 7549948 [TBL] [Abstract][Full Text] [Related]
33. Adult-onset exercise intolerance due to phosphorylase b kinase deficiency. Bak H; Cordato D; Carey WF; Milder D J Clin Neurosci; 2001 May; 8(3):286-7. PubMed ID: 11386811 [TBL] [Abstract][Full Text] [Related]
34. 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]
35. Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle. Madlom M; Besley GT; Cohen PT; Marrian VJ Eur J Pediatr; 1989 Oct; 149(1):52-3. PubMed ID: 2606129 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. [Genetic heterogeneity and the diagnosis of hepatic glycogenoses]. Lemonnier A; Baussan C; Moatti N C R Seances Soc Biol Fil; 1984; 178(4):327-47. PubMed ID: 6241011 [TBL] [Abstract][Full Text] [Related]
38. [Glycogenosis type VI. Report of two cases (author's transl)]. D'Eufemia P; Cantani A; Corrado G; Gambarara M; Ruberto U; Giardini O Pediatr Med Chir; 1981; 3(1):61-5. PubMed ID: 6795607 [No Abstract] [Full Text] [Related]