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 *

123 related articles for article (PubMed ID: 21844581)

  • 1. A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.
    Park KJ; Park HD; Lee SY; Ki CS; Choe YH
    Ann Clin Lab Sci; 2011; 41(2):197-200. PubMed ID: 21844581
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
    Hendrickx J; Lee P; Keating JP; Carton D; Sardharwalla IB; Tuchman M; Baussan C; Willems PJ
    Am J Hum Genet; 1999 Jun; 64(6):1541-9. PubMed ID: 10330341
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.
    Ban K; Sugiyama K; Goto K; Mizutani F; Togari H
    Tohoku J Exp Med; 2003 May; 200(1):47-53. PubMed ID: 12862311
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations.
    Choi R; Park HD; Kang B; Choi SY; Ki CS; Lee SY; Kim JW; Song J; Choe YH
    BMC Med Genet; 2016 Apr; 17():33. PubMed ID: 27103379
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.
    Chen ST; Chen HL; Ni YH; Chien YH; Jeng YM; Chang MH; Hwu WL
    Pediatr Neonatol; 2009 Oct; 50(5):230-3. PubMed ID: 19856867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.
    Hendrickx J; Bosshard NU; Willems P; Gitzelmann R
    Eur J Pediatr; 1998 Nov; 157(11):919-23. PubMed ID: 9835437
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
    Carrière C; Jonic S; Mornon JP; Callebaut I
    Biochim Biophys Acta; 2008 Nov; 1782(11):664-70. PubMed ID: 18950708
    [TBL] [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. Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
    Bali DS; Goldstein JL; Fredrickson K; Austin S; Pendyal S; Rehder C; Kishnani PS
    JIMD Rep; 2017; 37():63-72. PubMed ID: 28283841
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked liver glycogenosis: localization and isolation of a candidate gene.
    Hendrickx J; Coucke P; Bossuyt P; Wauters J; Raeymaekers P; Marchau F; Smit GP; Stolte I; Sardharwalla IB; Berthelot J
    Hum Mol Genet; 1993 May; 2(5):583-9. PubMed ID: 8518797
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1.
    Hidaka F; Sawada H; Matsuyama M; Nunoi H
    Pediatr Int; 2005 Dec; 47(6):687-90. PubMed ID: 16354226
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.
    Fu J; Wang T; Xiao X
    BMC Med Genet; 2019 Mar; 20(1):56. PubMed ID: 30925902
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Splicing abnormalities caused by a novel mutation in the
    Zhang ZH; Zheng BX; Zhuo YJ; Jin Y; Liu ZF; Zheng YC
    Zhonghua Gan Zang Bing Za Zhi; 2023 Apr; 31(4):428-432. PubMed ID: 37248983
    [No Abstract]   [Full Text] [Related]  

  • 20. Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.
    Willems PJ; Hendrickx J; Van der Auwera BJ; Vits L; Raeymaekers P; Coucke PJ; Van den Bergh I; Berger R; Smit GP; Van Broeckhoven C
    Genomics; 1991 Apr; 9(4):565-9. PubMed ID: 1674721
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.