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Journal Abstract Search

329 related items for PubMed ID: 31109299

  • 1. A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.
    Wang W, Yu R, Tan W, Dan Y, Deng G, Xia J.
    BMC Med Genet; 2019 May 20; 20(1):85. PubMed ID: 31109299
    [Abstract] [Full Text] [Related]

  • 2. A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.
    Wang A, Wu J, Yuan X, Liu J, Lu C.
    BMC Med Genomics; 2024 May 06; 17(1):124. PubMed ID: 38711024
    [Abstract] [Full Text] [Related]

  • 3. A glycogen storage disease type 1a patient with type 2 diabetes.
    Sun Y, Qiang W, Wu R, Yin T, Yuan J, Yuan J, Gu Y.
    BMC Med Genomics; 2022 Sep 27; 15(1):205. PubMed ID: 36167523
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  • 4. [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 27; 41(4):252-5. PubMed ID: 14754525
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  • 6. 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 27; 161 Suppl 1():S10-9. PubMed ID: 12373566
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  • 8. The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
    Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY.
    Mol Genet Metab; 2013 Nov 27; 110(3):275-80. PubMed ID: 23856420
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  • 9. Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
    Gul B, Firasat S, Shan T, Tehreem R, Afshan K.
    PLoS One; 2023 Nov 27; 18(11):e0288965. PubMed ID: 38033126
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  • 11. Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
    Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K.
    Am J Med Genet; 2000 Mar 13; 91(2):107-12. PubMed ID: 10748407
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  • 13. Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
    Kim YM, Choi JH, Lee BH, Kim GH, Kim KM, Yoo HW.
    Orphanet J Rare Dis; 2020 Feb 11; 15(1):45. PubMed ID: 32046761
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  • 14. Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
    Mahmoud SK, Khorrami A, Rafeey M, Ghergherehchi R, Sima MD.
    J Genet; 2017 Mar 11; 96(1):19-23. PubMed ID: 28360385
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  • 15. Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
    Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y.
    Eur J Med Genet; 2022 Jun 11; 65(6):104518. PubMed ID: 35550444
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  • 16. A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.
    Li X, Jing H, Cheng L, Xia J, Wang J, Li Q, Liu C, Cai P.
    Quant Imaging Med Surg; 2021 Jun 11; 11(6):2785-2791. PubMed ID: 34079743
    [Abstract] [Full Text] [Related]

  • 17. Obesity and reversed growth retardation in a child with type Ia glycogen storage disease.
    Karnsakul W, Gillespie S, Skitarelic K, Hummel M.
    J Pediatr Endocrinol Metab; 2010 May 11; 23(5):507-12. PubMed ID: 20662351
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  • 18. Emerging roles of autophagy in hepatic tumorigenesis and therapeutic strategies in glycogen storage disease type Ia: A review.
    Cho JH, Weinstein DA, Lee YM.
    J Inherit Metab Dis; 2021 Jan 11; 44(1):118-128. PubMed ID: 32474930
    [Abstract] [Full Text] [Related]

  • 19. Impaired Very-Low-Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia.
    Hoogerland JA, Peeks F, Hijmans BS, Wolters JC, Kooijman S, Bos T, Bleeker A, van Dijk TH, Wolters H, Gerding A, van Eunen K, Havinga R, Pronk ACM, Rensen PCN, Mithieux G, Rajas F, Kuipers F, Reijngoud DJ, Derks TGJ, Oosterveer MH.
    J Inherit Metab Dis; 2021 Jul 11; 44(4):879-892. PubMed ID: 33739445
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  • 20. 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
    [Abstract] [Full Text] [Related]

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