These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

158 related items for PubMed ID: 38033126

  • 1. 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; 18(11):e0288965. PubMed ID: 38033126
    [Abstract] [Full Text] [Related]

  • 2. [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; 41(4):252-5. PubMed ID: 14754525
    [Abstract] [Full Text] [Related]

  • 3. A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
    Gu LL, Li XH, Han Y, Zhang DH, Gong QM, Zhang XX.
    Gene; 2014 Feb 25; 536(2):362-5. PubMed ID: 24355556
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
    Peeks F, Steunenberg TAH, de Boer F, Rubio-Gozalbo ME, Williams M, Burghard R, Rajas F, Oosterveer MH, Weinstein DA, Derks TGJ.
    J Inherit Metab Dis; 2017 Sep 06; 40(5):695-702. PubMed ID: 28397058
    [Abstract] [Full Text] [Related]

  • 6. Correction of metabolic abnormalities in a mouse model of glycogen storage disease type Ia by CRISPR/Cas9-based gene editing.
    Arnaoutova I, Zhang L, Chen HD, Mansfield BC, Chou JY.
    Mol Ther; 2021 Apr 07; 29(4):1602-1610. PubMed ID: 33359667
    [Abstract] [Full Text] [Related]

  • 7. 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 07; 110(3):275-80. PubMed ID: 23856420
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
    Chou JY, Mansfield BC.
    Hum Mutat; 2008 Jul 07; 29(7):921-30. PubMed ID: 18449899
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. 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 07; 96(1):19-23. PubMed ID: 28360385
    [Abstract] [Full Text] [Related]

  • 12. 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 07; 8(10):e1444. PubMed ID: 32772503
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with glycogen storage disease type Ia.
    Yavarow ZA, Kang HR, Waskowicz LR, Bay BH, Young SP, Yen PM, Koeberl DD.
    Hum Mol Genet; 2020 Jan 15; 29(2):286-294. PubMed ID: 31816064
    [Abstract] [Full Text] [Related]

  • 18. Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
    Eminoglu TF, Ezgu FS, Hasanoglu A, Tumer L.
    Gene; 2013 Apr 15; 518(2):346-50. PubMed ID: 23352793
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.