These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

237 related articles for article (PubMed ID: 9215682)

  • 1. 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]  

  • 2. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
    Wehner M; Clemens PR; Engel AG; Kilimann MW
    Hum Mol Genet; 1994 Nov; 3(11):1983-7. PubMed ID: 7874115
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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; 14(3):337-40. PubMed ID: 8896567
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.
    Hendrickx J; Coucke P; Dams E; Lee P; Odièvre M; Corbeel L; Fernandes JF; Willems PJ
    Hum Mol Genet; 1995 Jan; 4(1):77-83. PubMed ID: 7711737
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
    Burwinkel B; Shiomi S; Al Zaben A; Kilimann MW
    Hum Mol Genet; 1998 Jan; 7(1):149-54. PubMed ID: 9384616
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
    Bruno C; Manfredi G; Andreu AL; Shanske S; Krishna S; Ilse WK; DiMauro S
    Biochem Biophys Res Commun; 1998 Aug; 249(3):648-51. PubMed ID: 9731190
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).
    van den Berg IE; van Beurden EA; de Klerk JB; van Diggelen OP; Malingré HE; Boer MM; Berger R
    Am J Hum Genet; 1997 Sep; 61(3):539-46. PubMed ID: 9326319
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2).
    van Beurden EA; de Graaf M; Wendel U; Gitzelmann R; Berger R; van den Berg IE
    Biochem Biophys Res Commun; 1997 Jul; 236(3):544-8. PubMed ID: 9245685
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
    Burwinkel B; Scott JW; Bührer C; van Landeghem FK; Cox GF; Wilson CJ; Grahame Hardie D; Kilimann MW
    Am J Hum Genet; 2005 Jun; 76(6):1034-49. PubMed ID: 15877279
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 92(1-2):88-99. PubMed ID: 17689125
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 33(9):1117-1123. PubMed ID: 32697758
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
    Burwinkel B; Kilimann MW
    J Mol Biol; 1998 Apr; 277(3):513-7. PubMed ID: 9533876
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
    Gossen M; Wüllrich A; Kilimann MW
    Hum Genet; 1995 Apr; 95(4):469-70. PubMed ID: 7705849
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
    Burwinkel B; Shin YS; Bakker HD; Deutsch J; Lozano MJ; Maire I; Kilimann MW
    Hum Mol Genet; 1996 May; 5(5):653-8. PubMed ID: 8733134
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.
    Hendrickx J; Dams E; Coucke P; Lee P; Fernandes J; Willems PJ
    Hum Mol Genet; 1996 May; 5(5):649-52. PubMed ID: 8733133
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.