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Journal Abstract Search

262 related items for PubMed ID: 32244026

  • 1. Molecular diagnosis of glycogen storage disease type IX using a glycogen storage disease gene panel.
    Kim TH, Kim KY, Kim MJ, Seong MW, Park SS, Moon JS, Ko JS.
    Eur J Med Genet; 2020 Jun; 63(6):103921. PubMed ID: 32244026
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  • 2. 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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  • 3. 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 28; 92(1-2):88-99. PubMed ID: 17689125
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  • 5. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
    Liang Y, Du C, Wei H, Zhang C, Zhang M, Hu M, Fang F, Luo X.
    Mol Genet Genomic Med; 2020 Oct 28; 8(10):e1444. PubMed ID: 32772503
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  • 6. 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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  • 10. 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 29; 173(5):647-53. PubMed ID: 24326380
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  • 11. 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 29; 131(3):299-305. PubMed ID: 33317799
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  • 12. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
    Roscher A, Patel J, Hewson S, Nagy L, Feigenbaum A, Kronick J, Raiman J, Schulze A, Siriwardena K, Mercimek-Mahmutoglu S.
    Mol Genet Metab; 2014 Nov 29; 113(3):171-6. PubMed ID: 25266922
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  • 13. Mutation in PHKA2 leading to childhood glycogen storage disease type IXa: A case report and literature review.
    Zhu Q, Wen XY, Zhang MY, Jin QL, Niu JQ.
    Medicine (Baltimore); 2019 Nov 29; 98(46):e17775. PubMed ID: 31725618
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