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Journal Abstract Search

445 related items for PubMed ID: 32772503

  • 1. 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; 8(10):e1444. PubMed ID: 32772503
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  • 2. Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
    Yu J, Ling X, Chen L, Fang Y, Lin H, Lou J, Ren Y, Chen J.
    Clin Genet; 2024 Sep; 106(3):267-276. PubMed ID: 38576397
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  • 4. 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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  • 5. 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 29; 63(6):103921. PubMed ID: 32244026
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  • 6. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
    Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M.
    Clin Genet; 2018 Feb 29; 93(2):350-355. PubMed ID: 28685844
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  • 8. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
    Matern D, Seydewitz HH, Bali D, Lang C, Chen YT.
    Eur J Pediatr; 2002 Oct 29; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 10. Novel variants in Turkish patients with glycogen storage disease.
    Çakar NE, Gezdirici A, Topuz HŞ, Önal H.
    Pediatr Int; 2020 Oct 29; 62(10):1145-1150. PubMed ID: 32374048
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  • 12. Glycogen storage disease type VI can progress to cirrhosis: ten Chinese patients with GSD VI and a literature review.
    Lu SQ, Feng JY, Liu J, Xie XB, Lu Y, Abuduxikuer K.
    J Pediatr Endocrinol Metab; 2020 Sep 07; 33(10):1321-1333. PubMed ID: 32892177
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  • 14. Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
    Zhang Y, Xu M, Chen X, Yan A, Zhang G, Liu Z, Qiu W.
    BMC Med Genet; 2018 Apr 04; 19(1):54. PubMed ID: 29614965
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  • 17. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.
    Chou JY, Jun HS, Mansfield BC.
    J Inherit Metab Dis; 2015 May 04; 38(3):511-9. PubMed ID: 25288127
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