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634 related items for PubMed ID: 12373566

  • 1. 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; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 2. Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.
    Takahashi K, Akanuma J, Matsubara Y, Fujii K, Kure S, Suzuki Y, Wataya K, Sakamoto O, Aoki Y, Ogasawara M, Ohura T, Miyabayashi S, Narisawa K.
    Am J Med Genet; 2000 May 15; 92(2):90-4. PubMed ID: 10797430
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  • 3. Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.
    Ki CS, Han SH, Kim HJ, Lee SG, Kim EJ, Kim JW, Choe YH, Seo JK, Chang YJ, Park JY.
    Clin Genet; 2004 Jun 15; 65(6):487-9. PubMed ID: 15151508
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  • 7. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
    Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E.
    Eur J Hum Genet; 1999 Sep 15; 7(6):717-23. PubMed ID: 10482962
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  • 8. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.
    Cherif W, Rhouma FB, Chehida AB, Azzouz H, Monastiri K, Amri F, Chemli J, Kaabachi N, Abdelhak S, Tebib N, Dridi MF.
    Pathol Biol (Paris); 2011 Aug 15; 59(4):e93-6. PubMed ID: 19896294
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  • 10. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
    Chou JY, Mansfield BC.
    Hum Mutat; 2008 Jul 15; 29(7):921-30. PubMed ID: 18449899
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  • 11. Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
    Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen YT.
    Pediatr Res; 2000 Sep 15; 48(3):329-34. PubMed ID: 10960498
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  • 13. 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 15; 38(3):511-9. PubMed ID: 25288127
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  • 15. [Heterogeneous phenotypes in Chinese glycogen storage disease type Ia patients with homozygous G727T mutation].
    Qiu ZQ, Wei M, Liu G, Liu GY.
    Zhonghua Er Ke Za Zhi; 2003 Apr 15; 41(4):252-5. PubMed ID: 14754525
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  • 16. Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
    Kozák L, Francová H, Hrabincová E, Stastná S, Pesková K, Elleder M.
    Hum Mutat; 2000 Jul 15; 16(1):89. PubMed ID: 10874313
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  • 17. Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
    Kasapkara CS, Tümer L, Okur I, Eminoğlu T, Ezgü FS, Hasanoğlu A.
    Turk J Pediatr; 2012 Jul 15; 54(1):35-7. PubMed ID: 22397040
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  • 18. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
    Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A.
    Eur J Pediatr; 2005 Aug 15; 164(8):501-8. PubMed ID: 15906092
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  • 19. 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 15; 93(2):350-355. PubMed ID: 28685844
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  • 20. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
    Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS, American College of Medical Genetics and Genomics.
    Genet Med; 2014 Nov 15; 16(11):e1. PubMed ID: 25356975
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