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Journal Abstract Search

261 related items for PubMed ID: 25804016

  • 1. Glycogen storage disease type 1b: an early onset severe phenotype associated with a novel mutation (IVS4) in the glucose 6-phosphate translocase (SLC37A4) gene in a Turkish patient.
    Oguz MM, Aykan E, Yilmaz G, Aytekin C, Karaer K, Açoğlu EA.
    Genet Couns; 2014; 25(4):389-94. PubMed ID: 25804016
    [Abstract] [Full Text] [Related]

  • 2. [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
    Liang CL, Liu L, Sheng HY, Jiang MY, Yin X, Mei HF, Cheng J, Zhang W, Fan LP.
    Zhongguo Dang Dai Er Ke Za Zhi; 2013 Aug; 15(8):661-5. PubMed ID: 23965881
    [Abstract] [Full Text] [Related]

  • 3. 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; 38(3):511-9. PubMed ID: 25288127
    [Abstract] [Full Text] [Related]

  • 4. Glycogen storage disease type Ib: the first case in Taiwan.
    Hsiao HJ, Chang HH, Hwu WL, Lam CW, Lee NC, Chien YH.
    Pediatr Neonatol; 2009 Jun; 50(3):125-8. PubMed ID: 19579760
    [Abstract] [Full Text] [Related]

  • 5. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
    Qiu ZQ, Lu CX, Wang W, Qiu JJ, Wei M.
    Zhonghua Er Ke Za Zhi; 2011 Mar; 49(3):203-8. PubMed ID: 21575371
    [Abstract] [Full Text] [Related]

  • 6. A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
    Xu Q, Tang H, Duan L, Zuo X, Shi X, Li Y, Zhao H, Zhang H.
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1568. PubMed ID: 33280276
    [Abstract] [Full Text] [Related]

  • 7. Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.
    Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M.
    Eur J Med Genet; 2020 Mar; 63(3):103767. PubMed ID: 31536830
    [Abstract] [Full Text] [Related]

  • 8. Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.
    Meimand SE, Azizi G, Yazdani R, Sanadgol N, Rezaei N.
    Immunol Res; 2023 Feb; 71(1):107-111. PubMed ID: 36129616
    [Abstract] [Full Text] [Related]

  • 9. CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
    Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M.
    Gene; 2019 Jun 30; 703():17-25. PubMed ID: 30951856
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 161 Suppl 1():S10-9. PubMed ID: 12373566
    [Abstract] [Full Text] [Related]

  • 11. Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
    Bock DE, Rupar CA, Prasad C.
    Acta Paediatr; 2011 Sep 30; 100(9):e130-2. PubMed ID: 21352356
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 164(8):501-8. PubMed ID: 15906092
    [Abstract] [Full Text] [Related]

  • 13. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
    Mameesh M, Ganesh A, Harikrishna B, Al Zuhaibi S, Scott P, Al Kalbani S, Al Thihli K.
    Ophthalmic Genet; 2017 Dec 30; 38(6):544-548. PubMed ID: 28511025
    [Abstract] [Full Text] [Related]

  • 14. Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration.
    Kim GY, Lee YM, Kwon JH, Jun HS, Chou J.
    Biochem Biophys Res Commun; 2017 Jan 22; 482(4):569-574. PubMed ID: 27864142
    [Abstract] [Full Text] [Related]

  • 15. 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 22; 93(2):350-355. PubMed ID: 28685844
    [Abstract] [Full Text] [Related]

  • 16. Molecular biology and gene therapy for glycogen storage disease type Ib.
    Chou JY, Cho JH, Kim GY, Mansfield BC.
    J Inherit Metab Dis; 2018 Nov 22; 41(6):1007-1014. PubMed ID: 29663270
    [Abstract] [Full Text] [Related]

  • 17. A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
    Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW.
    J Korean Med Sci; 2005 Jun 22; 20(3):499-501. PubMed ID: 15953877
    [Abstract] [Full Text] [Related]

  • 18. Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
    Chen LY, Shieh JJ, Lin B, Pan CJ, Gao JL, Murphy PM, Roe TF, Moses S, Ward JM, Lee EJ, Westphal H, Mansfield BC, Chou JY.
    Hum Mol Genet; 2003 Oct 01; 12(19):2547-58. PubMed ID: 12925567
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.
    Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V.
    FEBS Lett; 1999 Oct 08; 459(2):255-8. PubMed ID: 10518030
    [Abstract] [Full Text] [Related]

  • 20. Molecular genetics of type 1 glycogen storage disease.
    Janecke AR, Mayatepek E, Utermann G.
    Mol Genet Metab; 2001 Jun 08; 73(2):117-25. PubMed ID: 11386847
    [Abstract] [Full Text] [Related]

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