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Journal Abstract Search

211 related items for PubMed ID: 24389071

  • 1. 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
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.
    ; 1993 Mar. PubMed ID: 21634085
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  • 6. 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 Mar; 104(1-2):137-43. PubMed ID: 21646031
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  • 7. 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 Mar; 92(1-2):88-99. PubMed ID: 17689125
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  • 8. 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
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  • 9. 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
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  • 10. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.
    Benner A, Alhaidan Y, Lines MA, Brusgaard K, De Leon DD, Sparkes R, Frederiksen AL, Christesen HT.
    Am J Med Genet A; 2021 Oct 28; 185(10):2959-2975. PubMed ID: 34117828
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  • 11. Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
    Albash B, Imtiaz F, Al-Zaidan H, Al-Manea H, Banemai M, Allam R, Al-Suheel A, Al-Owain M.
    Eur J Pediatr; 2014 May 28; 173(5):647-53. PubMed ID: 24326380
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  • 12. 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
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  • 13. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
    Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS, ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.
    Genet Med; 2019 Apr 28; 21(4):772-789. PubMed ID: 30659246
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  • 14. 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 29; 20(1):56. PubMed ID: 30925902
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  • 15. A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
    Shao Y, Li T, Jiang M, Xu J, Huang Y, Li X, Zheng R, Liu L.
    BMC Pediatr; 2022 May 12; 22(1):267. PubMed ID: 35549678
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  • 16. 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 May 12; 37():63-72. PubMed ID: 28283841
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  • 17. 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 12; 102(4):423-9. PubMed ID: 9600238
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  • 18. A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.
    Arends CJ, Wilson LH, Estrella A, Kwon OS, Weinstein DA, Lee YM.
    Int J Mol Sci; 2022 Sep 01; 23(17):. PubMed ID: 36077341
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 37(5):376-7. PubMed ID: 10905889
    [No Abstract] [Full Text] [Related]

  • 20. Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
    Fernandes SA, Cooper GE, Gibson RA, Kishnani PS.
    Mol Genet Metab; 2020 Nov 01; 131(3):299-305. PubMed ID: 33317799
    [Abstract] [Full Text] [Related]

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