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2. Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens. Wagner R; Huijing F; Porter E Am J Med; 1971 Nov; 51(5):685-91. PubMed ID: 5287080 [No Abstract] [Full Text] [Related]
3. Liver glycogenosis and phosphorylase kinase deficiency. Hug G; Schubert WK; Chuck G Am J Hum Genet; 1970 Jul; 22(4):484. PubMed ID: 5270452 [No Abstract] [Full Text] [Related]
4. [Heterogeneity of glycogenosis type VI. Study of leukocyte phosphorylase activity in 2 families]. Guibaud P; Mathieu M Arch Fr Pediatr; 1972 Dec; 29(10):1043-57. PubMed ID: 4350946 [No Abstract] [Full Text] [Related]
5. Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. Schimke RN; Zakheim RM; Corder RC; Hug G J Pediatr; 1973 Dec; 83(6):1031-4. PubMed ID: 4518931 [No Abstract] [Full Text] [Related]
6. X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Huijing F; Fernandes J Am J Hum Genet; 1969 May; 21(3):275-84. PubMed ID: 5306139 [No Abstract] [Full Text] [Related]
7. A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. Burwinkel B; Sanjad SA; Al-Sabban E; Al-Abbad A; Kilimann MW Hum Genet; 1999 Sep; 105(3):240-3. PubMed ID: 10987651 [TBL] [Abstract][Full Text] [Related]
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]
10. Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen. Hug G; Schubert WK; Chuck G Science; 1966 Sep; 153(3743):1534-5. PubMed ID: 5223147 [TBL] [Abstract][Full Text] [Related]
11. [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]
12. 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]
13. Glycogenosis type 6 (liver phosphorylase deficiency). A case followed for ten years, with normal phosphorylase activity in white blood cells and jejunal mucosa. Ockerman PA; Jelke H; Kaijser K Acta Paediatr Scand; 1966 Jan; 55(1):10-6. PubMed ID: 5223676 [No Abstract] [Full Text] [Related]
14. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Burwinkel B; Moses SW; Kilimann MW Hum Genet; 1997 Dec; 101(2):170-4. PubMed ID: 9402963 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R). Burwinkel B; Tanner MS; Kilimann MW J Med Genet; 2000 May; 37(5):376-7. PubMed ID: 10905889 [No Abstract] [Full Text] [Related]
17. 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]