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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

180 related items for PubMed ID: 9384616

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
    Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.
    Mol Genet Metab; 2014 Mar; 111(3):309-313. PubMed ID: 24389071
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 25; 33(9):1117-1123. PubMed ID: 32697758
    [Abstract] [Full Text] [Related]

  • 12. PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.
    Li C, Huang L, Tian L, Chen J, Li S, Yang Z.
    J Pediatr Endocrinol Metab; 2018 Mar 28; 31(3):331-338. PubMed ID: 29360628
    [Abstract] [Full Text] [Related]

  • 13. 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 28; 5(5):653-8. PubMed ID: 8733134
    [Abstract] [Full Text] [Related]

  • 14. Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2-/- mouse model.
    Gibson RA, Lim JA, Choi SJ, Flores L, Clinton L, Bali D, Young S, Asokan A, Sun B, Kishnani PS.
    Mol Genet Metab; 2021 Jul 28; 133(3):269-276. PubMed ID: 34083142
    [Abstract] [Full Text] [Related]

  • 15. 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 28; 6(7):1109-15. PubMed ID: 9215682
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 4(1):77-83. PubMed ID: 7711737
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. 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 28; 5(5):649-52. PubMed ID: 8733133
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.