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Journal Abstract Search

301 related items for PubMed ID: 36632325

  • 1. Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test.
    Turki A, Stockler S, Sirrs S, Duddy K, Ho G, Elango R.
    Mol Genet Metab Rep; 2023 Mar; 34():100955. PubMed ID: 36632325
    [Abstract] [Full Text] [Related]

  • 2. Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.
    Turki A, Stockler S, Sirrs S, Salvarinova R, Ho G, Branov J, Rosen-Heath A, Bosdet T, Elango R.
    Mol Genet Metab Rep; 2022 Jun; 31():100880. PubMed ID: 35585965
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS.
    ; 1993 Jun. PubMed ID: 20301489
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Schreuder AB, Rossi A, Grünert SC, Derks TGJ.
    ; 1993 May. PubMed ID: 20301788
    [Abstract] [Full Text] [Related]

  • 6. Utilization of cornstarch in glycogen storage disease type Ia.
    Bodamer OA, Feillet F, Lane RE, Lee PJ, Dixon MA, Halliday D, Leonard JV.
    Eur J Gastroenterol Hepatol; 2002 Nov; 14(11):1251-6. PubMed ID: 12439121
    [Abstract] [Full Text] [Related]

  • 7. Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.
    Chou JY, Jun HS, Mansfield BC.
    Nat Rev Endocrinol; 2010 Dec; 6(12):676-88. PubMed ID: 20975743
    [Abstract] [Full Text] [Related]

  • 8. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
    Chou JY, Matern D, Mansfield BC, Chen YT.
    Curr Mol Med; 2002 Mar; 2(2):121-43. PubMed ID: 11949931
    [Abstract] [Full Text] [Related]

  • 9. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.
    Dale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA.
    Curr Opin Hematol; 2019 Jan; 26(1):16-21. PubMed ID: 30451720
    [Abstract] [Full Text] [Related]

  • 10. 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; 41(6):1007-1014. PubMed ID: 29663270
    [Abstract] [Full Text] [Related]

  • 11. A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
    Monteiro VCL, de Oliveira BM, Dos Santos BB, Sperb-Ludwig F, Refosco LF, Nalin T, Derks TGJ, Moura de Souza CF, Schwartz IVD.
    Orphanet J Rare Dis; 2021 Jun 03; 16(1):254. PubMed ID: 34082801
    [Abstract] [Full Text] [Related]

  • 12. Gene therapy for type I glycogen storage diseases.
    Chou JY, Mansfield BC.
    Curr Gene Ther; 2007 Apr 03; 7(2):79-88. PubMed ID: 17430128
    [Abstract] [Full Text] [Related]

  • 13. Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
    Shao YX, Liang CL, Su YY, Lin YT, Lu ZK, Lin RZ, Zhou ZZ, Zeng CH, Tao CY, Liu ZC, Zhang W, Liu L.
    Orphanet J Rare Dis; 2024 Apr 11; 19(1):155. PubMed ID: 38605407
    [Abstract] [Full Text] [Related]

  • 14. 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 Apr 11; 25(4):389-94. PubMed ID: 25804016
    [Abstract] [Full Text] [Related]

  • 15. Glucose-6-phosphatase deficiency.
    Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P.
    Orphanet J Rare Dis; 2011 May 20; 6():27. PubMed ID: 21599942
    [Abstract] [Full Text] [Related]

  • 16. Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
    Weinstein DA, Jackson RJ, Brennan EA, Williams M, Davison JE, Boer F, Derks T, Ellerton C, Faragher B, Gribben J, Labrune P, McKittrick KM, Murphy E, Ross KM, Steuerwald U, Voillot C, Woodward A, Mundy HR.
    Orphanet J Rare Dis; 2024 Jul 09; 19(1):258. PubMed ID: 38982397
    [Abstract] [Full Text] [Related]

  • 17. The molecular basis of type 1 glycogen storage diseases.
    Chou JY.
    Curr Mol Med; 2001 Mar 09; 1(1):25-44. PubMed ID: 11899241
    [Abstract] [Full Text] [Related]

  • 18.
    Parikh NS, Ahlawat R.
    ; 2024 01 09. PubMed ID: 30480935
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch.
    Rousseau-Nepton I, Huot C, Laforte D, Mok E, Fenyves D, Constantin E, Mitchell J.
    Mol Genet Metab; 2018 Mar 01; 123(3):326-330. PubMed ID: 29223626
    [Abstract] [Full Text] [Related]

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