TY - JOUR AU - Gerin, I. AU - Veiga-da-Cunha, M. AU - Achouri, Y. AU - Collet, J. F. AU - Schaftingen, E. PY - 1997 DA - 1997// TI - Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib JO - FEBS Lett VL - 419 UR - https://doi.org/10.1016/S0014-5793(97)01463-4 DO - 10.1016/S0014-5793(97)01463-4 ID - Gerin1997 ER - TY - JOUR AU - Li, A. M. AU - Thyagu, S. AU - Maze, D. AU - Schreiber, R. AU - Sirrs, S. AU - Stockler-Ipsiroglu, S. PY - 2018 DA - 2018// TI - Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length JO - Pediatr Hematol Oncol VL - 35 UR - https://doi.org/10.1080/08880018.2018.1440675 DO - 10.1080/08880018.2018.1440675 ID - Li2018 ER - TY - JOUR AU - Chen, M. A. AU - Weinstein, D. A. PY - 2016 DA - 2016// TI - Glycogen storage diseases: Diagnosis, treatment and outcome JO - Transl Sci Rare Dis VL - 1 ID - Chen2016 ER - TY - JOUR AU - Visser, G. AU - Rake, J. P. AU - Fernandes, J. AU - Labrune, P. AU - Leonard, J. V. AU - Moses, S. PY - 2000 DA - 2000// TI - Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European study on glycogen storage disease type I JO - J Pediatr VL - 137 UR - https://doi.org/10.1067/mpd.2000.105232 DO - 10.1067/mpd.2000.105232 ID - Visser2000 ER - TY - JOUR AU - Jun, H. S. AU - Weinstein, D. A. AU - Lee, Y. M. AU - Mansfield, B. C. AU - Chou, J. Y. PY - 2014 DA - 2014// TI - Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib JO - Blood. VL - 123 UR - https://doi.org/10.1182/blood-2013-05-502435 DO - 10.1182/blood-2013-05-502435 ID - Jun2014 ER - TY - JOUR AU - Kuijpers, T. W. AU - Maianski, N. A. AU - Tool, A. T. J. AU - Smit, G. P. A. AU - Rake, J. P. AU - Roos, D. PY - 2003 DA - 2003// TI - Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b) JO - Blood. VL - 101 UR - https://doi.org/10.1182/blood-2002-10-3128 DO - 10.1182/blood-2002-10-3128 ID - Kuijpers2003 ER - TY - JOUR AU - Kim, S. Y. AU - Jun, H. S. AU - Mead, P. A. AU - Mansfield, B. C. AU - Chou, J. Y. PY - 2008 DA - 2008// TI - Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib JO - Blood. VL - 111 UR - https://doi.org/10.1182/blood-2007-12-129114 DO - 10.1182/blood-2007-12-129114 ID - Kim2008 ER - TY - JOUR AU - Chou, J. Y. AU - Jun, H. S. AU - Mansfield, B. C. PY - 2010 DA - 2010// TI - Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy JO - Nat Rev Endocrinol VL - 6 UR - https://doi.org/10.1038/nrendo.2010.189 DO - 10.1038/nrendo.2010.189 ID - Chou2010 ER - TY - JOUR AU - Chou, J. Y. AU - Jun, H. S. AU - Mansfield, B. C. PY - 2010 DA - 2010// TI - Neutropenia in type Ib glycogen storage disease JO - Curr Opin Hematol VL - 17 UR - https://doi.org/10.1097/MOH.0b013e328331df85 DO - 10.1097/MOH.0b013e328331df85 ID - Chou2010 ER - TY - JOUR AU - Veiga-da-Cunha, M. AU - Chevalier, N. AU - Stephenne, X. AU - Defour, J. -. P. AU - Paczia, N. AU - Ferster, A. PY - 2019 DA - 2019// TI - Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency JO - Proc Natl Acad Sci U S A VL - 116 UR - https://doi.org/10.1073/pnas.1816143116 DO - 10.1073/pnas.1816143116 ID - Veiga-da-Cunha2019 ER - TY - JOUR AU - Kim, G. -. Y. AU - Lee, Y. M. AU - Kwon, J. H. AU - Jun, H. S. AU - Chou, J. PY - 2017 DA - 2017// TI - Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration JO - Biochem Biophys Res Commun VL - 482 UR - https://doi.org/10.1016/j.bbrc.2016.11.075 DO - 10.1016/j.bbrc.2016.11.075 ID - Kim2017 ER - TY - STD TI - Wortmann SB, Van Hove JLK, Derks TGJ, Chevalier N, Knight V, Koller A, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease IB with an SGLT2-inhibitor. Blood. 2020;blood.2019004465. https://doi.org/10.1182/blood.2019004465. Online ahead of print. ID - ref12 ER - TY - JOUR AU - DeFronzo, R. A. AU - Hompesch, M. AU - Kasichayanula, S. AU - Liu, X. AU - Hong, Y. AU - Pfister, M. PY - 2013 DA - 2013// TI - Characterization of renal glucose reabsorption in response to dapagliflozin in healthy subjects and subjects with type 2 diabetes JO - Diabetes Care VL - 36 UR - https://doi.org/10.2337/dc13-0387 DO - 10.2337/dc13-0387 ID - DeFronzo2013 ER - TY - JOUR AU - Fortuna, D. AU - McCloskey, L. J. AU - Stickle, D. F. PY - 2016 DA - 2016// TI - Model analysis of effect of canagliflozin (Invokana), a sodium-glucose cotransporter 2 inhibitor, to alter plasma 1,5-anhydroglucitol JO - Clin Chim Acta VL - 452 UR - https://doi.org/10.1016/j.cca.2015.11.010 DO - 10.1016/j.cca.2015.11.010 ID - Fortuna2016 ER - TY - JOUR AU - Vowells, S. J. AU - Sekhsaria, S. AU - Malech, H. L. AU - Shalit, M. AU - Fleisher, T. A. PY - 1995 DA - 1995// TI - Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes JO - J Immunol Methods VL - 178 UR - https://doi.org/10.1016/0022-1759(94)00247-T DO - 10.1016/0022-1759(94)00247-T ID - Vowells1995 ER - TY - JOUR AU - Dale, D. C. AU - Bolyard, A. A. AU - Marrero, T. AU - Kelley, M. L. AU - Makaryan, V. AU - Tran, E. PY - 2019 DA - 2019// TI - Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor JO - Curr Opin Hematol VL - 26 UR - https://doi.org/10.1097/MOH.0000000000000474 DO - 10.1097/MOH.0000000000000474 ID - Dale2019 ER - TY - JOUR AU - Pinsk, M. AU - Burzynski, J. AU - Yhap, M. AU - Fraser, R. B. AU - Cummings, B. AU - Ste-Marie, M. PY - 2002 DA - 2002// TI - Acute myelogenous leukemia and glycogen storage disease 1b JO - J Pediatr Hematol Oncol VL - 24 UR - https://doi.org/10.1097/00043426-200212000-00015 DO - 10.1097/00043426-200212000-00015 ID - Pinsk2002 ER - TY - JOUR AU - Schroeder, T. AU - Hildebrandt, B. AU - Mayatepek, E. AU - Germing, U. AU - Haas, R. PY - 2008 DA - 2008// TI - A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report JO - J Med Case Reports VL - 2 UR - https://doi.org/10.1186/1752-1947-2-319 DO - 10.1186/1752-1947-2-319 ID - Schroeder2008 ER - TY - JOUR AU - Kishnani, P. S. AU - Austin, S. L. AU - Abdenur, J. E. AU - Arn, P. AU - Bali, D. S. AU - Boney, A. PY - 2014 DA - 2014// TI - Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics JO - Genet Med VL - 16 UR - https://doi.org/10.1038/gim.2014.128 DO - 10.1038/gim.2014.128 ID - Kishnani2014 ER - TY - JOUR AU - Calderwood, S. AU - Kilpatrick, L. AU - Douglas, S. D. AU - Freedman, M. AU - Smith-Whitley, K. AU - Rolland, M. PY - 2001 DA - 2001// TI - Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b JO - Blood. VL - 97 UR - https://doi.org/10.1182/blood.V97.2.376 DO - 10.1182/blood.V97.2.376 ID - Calderwood2001 ER -