Academic literature on the topic 'Treatment of creatine transporter deficiency'
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Journal articles on the topic "Treatment of creatine transporter deficiency"
Kurosawa, Yuko, Ton J. DeGrauw, Diana M. Lindquist, Victor M. Blanco, Gail J. Pyne-Geithman, Takiko Daikoku, James B. Chambers, Stephen C. Benoit, and Joseph F. Clark. "Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency." Journal of Clinical Investigation 122, no. 8 (August 1, 2012): 2837–46. http://dx.doi.org/10.1172/jci59373.
Full textBruun, Theodora U. J., Sarah Sidky, Anabela O. Bandeira, Francoise-Guillaume Debray, Can Ficicioglu, Jennifer Goldstein, Kairit Joost, et al. "Treatment outcome of creatine transporter deficiency: international retrospective cohort study." Metabolic Brain Disease 33, no. 3 (February 12, 2018): 875–84. http://dx.doi.org/10.1007/s11011-018-0197-3.
Full textAdriano, Enrico, Maurizio Gulino, Maria Arkel, Annalisa Salis, Gianluca Damonte, Nara Liessi, Enrico Millo, Patrizia Garbati, and Maurizio Balestrino. "Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency." Neuroscience Letters 665 (February 2018): 217–23. http://dx.doi.org/10.1016/j.neulet.2017.12.020.
Full textBaroncelli, Laura, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, and Tommaso Pizzorusso. "A novel mouse model of creatine transporter deficiency." F1000Research 3 (September 29, 2014): 228. http://dx.doi.org/10.12688/f1000research.5369.1.
Full textBaroncelli, Laura, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Francesca Zonfrillo, et al. "A novel mouse model of creatine transporter deficiency." F1000Research 3 (January 22, 2015): 228. http://dx.doi.org/10.12688/f1000research.5369.2.
Full textTrotier-Faurion, Alexandra, Catherine Passirani, Jérôme Béjaud, Sophie Dézard, Vassili Valayannopoulos, Fréderic Taran, Pascale de Lonlay, Jean-Pierre Benoit, and Aloïse Mabondzo. "Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency." Nanomedicine 10, no. 2 (January 2015): 185–91. http://dx.doi.org/10.2217/nnm.13.205.
Full textSchjelderup, Jack, Sigrun Hope, Christian Vatshelle, and Clara D. M. van Karnebeek. "Treatment experience in two adults with creatinfe transporter deficiency." Molecular Genetics and Metabolism Reports 27 (June 2021): 100731. http://dx.doi.org/10.1016/j.ymgmr.2021.100731.
Full textJaggumantri, Sravan, Mary Dunbar, Vanessa Edgar, Cristina Mignone, Theresa Newlove, Rajavel Elango, Jean Paul Collet, Michael Sargent, Sylvia Stockler-Ipsiroglu, and Clara D. M. van Karnebeek. "Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements." Pediatric Neurology 53, no. 4 (October 2015): 360–63. http://dx.doi.org/10.1016/j.pediatrneurol.2015.05.006.
Full textDi Biase, Stefano, Xiaoya Ma, Xi Wang, Jiaji Yu, Yu-Chen Wang, Drake J. Smith, Yang Zhou, et al. "Creatine uptake regulates CD8 T cell antitumor immunity." Journal of Experimental Medicine 216, no. 12 (October 18, 2019): 2869–82. http://dx.doi.org/10.1084/jem.20182044.
Full textTrotier-Faurion, Alexandra, Sophie Dézard, Frédéric Taran, Vassili Valayannopoulos, Pascale de Lonlay, and Aloïse Mabondzo. "Synthesis and Biological Evaluation of New Creatine Fatty Esters Revealed Dodecyl Creatine Ester as a Promising Drug Candidate for the Treatment of the Creatine Transporter Deficiency." Journal of Medicinal Chemistry 56, no. 12 (June 7, 2013): 5173–81. http://dx.doi.org/10.1021/jm400545n.
Full textDissertations / Theses on the topic "Treatment of creatine transporter deficiency"
Udobi, Kenea C. "The Critical Period for Creatine Transporter Deficiency." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1543838614741075.
Full textMiles, Keila. "Determining the Effect of a Ketogenic Diet on Creatine Transporter Deficient Mice." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1613745795667418.
Full textTrotier-Faurion, Alexandra. "Optimisation pharmacologique des dérivés de la créatine pour le traitement du déficit en transporteur de la créatine." Phd thesis, Université Paris Sud - Paris XI, 2013. http://tel.archives-ouvertes.fr/tel-00806976.
Full text"The glucose transporter type 1 deficiency syndrome: new insights into diagnosis, pathogenicity, and treatment." 2004. http://library.cuhk.edu.hk/record=b5892207.
Full textThesis (M.Phil.)--Chinese University of Hong Kong, 2004.
Includes bibliographical references (leaves 157-175).
Abstracts in English and Chinese.
Acknowledgements --- p.i
Abstract --- p.ii
Abstract 摘要 --- p.iv
List of Figures --- p.vi
List of Tables --- p.ix
List of Abbreviations --- p.x
Table of Contents --- p.xiii
Chapter Chapter 1: --- Introduction --- p.1
Chapter 1.1 --- Importance of Glucose in Biological System --- p.1
Chapter 1.2 --- Glucose Transporter Families --- p.2
Chapter 1.2.1 --- Na+-Dependent Glucose Transporters --- p.2
Chapter 1.2.2 --- Facilitative Glucose Transporters --- p.3
Chapter 1.3 --- Glucose Transporter Type1 --- p.7
Chapter 1.3.1 --- Primary Structure --- p.7
Chapter 1.3.2 --- Secondary Structure --- p.8
Chapter 1.3.3 --- Membrane Topology --- p.8
Chapter 1.3.4 --- Tertiary Structure --- p.9
Chapter 1.3.5 --- Kinetics Properties --- p.11
Chapter 1.3.6 --- Affinity Reagents --- p.12
Chapter 1.3.7 --- Tissue Distribution --- p.13
Chapter 1.3.8 --- Multifunctional Property --- p.14
Chapter 1.3.9 --- Characterization of GLUT1 Gene --- p.14
Chapter 1.3.10 --- Regulation of GLUT1 Expression --- p.15
Chapter 1.4 --- Glucose Transporter Type 1 and the Brain --- p.17
Chapter 1.5 --- Glucose Transporter Type 1 Deficiency Syndrome --- p.20
Chapter 1.5.1 --- Background of GlutlDS --- p.20
Chapter 1.5.2 --- Clinical Features of GlutlDS --- p.23
Chapter 1.5.3 --- Genotype-Phenotype Correlations --- p.24
Chapter 1.5.4 --- Diagnosis --- p.26
Chapter 1.5.4.1 --- Erythrocyte Glucose Transporter Activity --- p.26
Chapter 1.5.4.2 --- Molecular Genetic Testing of GLUT1 Gene --- p.27
Chapter 1.5.4.3 --- Glucose Concentration --- p.27
Chapter 1.5.5 --- Management --- p.28
Chapter 1.5.5.1 --- Ketogenic Diet --- p.28
Chapter 1.5.5.2 --- Medication --- p.29
Chapter 1.5.5.2.1 --- Glutl Activator --- p.29
Chapter 1.5.5.2.2 --- Glutl Inhibitor --- p.29
Chapter 1.6 --- Hypothesis and Objectives --- p.31
Chapter Chapter 2: --- Identification of the First Two Asian GlutlDS Cases --- p.33
Chapter 2.1 --- Materials --- p.34
Chapter 2.1.1 --- Clinical History of Suspected GlutlDS Patients --- p.34
Chapter 2.1.2 --- Blood Samples --- p.35
Chapter 2.1.3 --- Reagents for Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.35
Chapter 2.1.4 --- Reagents for Zero-trans Efflux of 3-OMG Uptake in Erythrocytes --- p.37
Chapter 2.1.5 --- Reagents for Glutl Gene Analysis --- p.37
Chapter 2.1.6 --- Reagents and Buffers for Reverse Transcription --- p.38
Chapter 2.1.7 --- Reagents and Buffers for Agarose Gel Electrophoresis --- p.39
Chapter 2.1.8 --- Reagents for Erythrocytes Membrane Preparation and Detection --- p.41
Chapter 2.2 --- Methods --- p.46
Chapter 2.2.1 --- Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.46
Chapter 2.2.2 --- Zero-trans Efflux of 3-OMG out of Erythrocytes --- p.47
Chapter 2.2.3 --- Glutl Protein Expression --- p.48
Chapter 2.2.4 --- GLUT1 Gene Analyses --- p.51
Chapter 2.2.5 --- Statistics --- p.58
Chapter 2.3 --- Results --- p.59
Chapter 2.4 --- Discussions and Conclusions --- p.69
Chapter Chapter 3: --- Pathogenicity of GLUT1 Mutations --- p.78
Chapter 3.1 --- Materials --- p.79
Chapter 3.1.1 --- Construction of Glutl-Encoding Vectors --- p.79
Chapter 3.1.2 --- Cell Lines --- p.80
Chapter 3.1.3 --- "Cell Culture Media, Buffers and Other Reagents" --- p.81
Chapter 3.1.4 --- Cell Culture Wares --- p.83
Chapter 3.1.5 --- Reagents for Transfection --- p.83
Chapter 3.1.6 --- Reagents for Protein Determination and Western Blot Analysis --- p.83
Chapter 3.1.7 --- Reagents and Buffers for Flow Cytometry --- p.84
Chapter 3.1.8 --- Reagents for 2-DOG Uptake in CHO-K1 Cells --- p.84
Chapter 3.1.9 --- Reagents and Consumables for Confocal Microscopy --- p.85
Chapter 3.2 --- Methods --- p.86
Chapter 3.2.1 --- Cell Culture Methodology --- p.86
Chapter 3.2.2 --- Construction of Glutl-Encoding Vectors --- p.87
Chapter 3.2.3 --- Construction of Glutl Mutants --- p.91
Chapter 3.2.4 --- Establishment of Wild Type and Mutant Glutl Expressing Cell Lines --- p.92
Chapter 3.2.5 --- Glucose Influx Assays in CHO-K1 Cells --- p.96
Chapter 3.2.6 --- Confocal Microscopy Studies on Glutl Cellular Localization --- p.97
Chapter 3.2.7 --- Statistics --- p.98
Chapter 3.3 --- Results --- p.99
Chapter 3.4 --- Discussions and Conclusions --- p.112
Chapter Chapter 4: --- Effects of Anticonvulsive Compounds on Cellular Glucose Transport --- p.117
Chapter 4.1 --- Materials --- p.118
Chapter 4.1.1 --- Cell Lines --- p.118
Chapter 4.1.2 --- Cell Culture Media --- p.118
Chapter 4.1.3 --- Blood Sample --- p.119
Chapter 4.1.4 --- Anticonvulsive Compounds --- p.119
Chapter 4.1.5 --- Reagents for Zero-trans Influx of 3-OMG Uptake in Fibroblasts --- p.120
Chapter 4.1.6 --- Reagents for Zero-trans Influx of 2-DOG Uptake in Primary Astrocytes --- p.120
Chapter 4.1.7 --- Reagents for Total RNA Isolation --- p.121
Chapter 4.1.8 --- Reagents and Consumables for Real-Time PCR --- p.122
Chapter 4.2 --- Methods --- p.123
Chapter 4.2.1 --- Cell Culture --- p.123
Chapter 4.2.2 --- Drug Concentrations --- p.123
Chapter 4.2.3 --- Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.123
Chapter 4.2.4 --- Zero-trans Influx of 3-OMG Uptake in Fibroblasts --- p.124
Chapter 4.2.5 --- Zero-trans Influx of 2-DOG Uptake in Primary Astrocytes --- p.125
Chapter 4.2.6 --- Gene Expression Study --- p.127
Chapter 4.2.7 --- Statistics --- p.130
Chapter 4.3 --- Results --- p.131
Chapter 4.4 --- Discussions and Conclusions --- p.148
Chapter Chapter 5: --- General Conclusions and Future Perspectives --- p.154
References --- p.157
Books on the topic "Treatment of creatine transporter deficiency"
Klepper, Joerg. Glut1 Deficiency and the Ketogenic Diets. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0005.
Full textMorris, Andrew A. M. Disorders of Ketogenesis and Ketolysis. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0009.
Full textHsieh, David T., and Elizabeth A. Thiele. Ketogenic Diet for Other Epilepsies. Edited by Eric H. Kossoff. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190497996.003.0007.
Full textBook chapters on the topic "Treatment of creatine transporter deficiency"
Villar, Cristina, Jaume Campistol, Carmen Fons, Judith Armstrong, Anna Mas, Aida Ormazabal, and Rafael Artuch. "Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients." In JIMD Reports, 13–16. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_41.
Full textPeters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Creatine Transporter Deficiency." In Encyclopedia of Molecular Mechanisms of Disease, 460–61. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_424.
Full textdeGrauw, Ton J., Kim M. Cecil, Anna W. Byars, Gajja S. Salomons, William S. Ball, and Cornelis Jakobs. "The clinical syndrome of creatine transporter deficiency." In Guanidino Compounds in Biology and Medicine, 45–48. Boston, MA: Springer US, 2003. http://dx.doi.org/10.1007/978-1-4615-0247-0_6.
Full textPeters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Creatine Deficiency Syndrome due to X-linked Creatine Transporter Gene Defect." In Encyclopedia of Molecular Mechanisms of Disease, 460. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_8236.
Full textTorres, A., S. A. Newton, B. Crompton, A. Borzutzky, E. J. Neufeld, L. Notarangelo, and G. T. Berry. "CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency." In JIMD Reports, 91–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/8904_2015_445.
Full textStevenson, Roger E., Charles E. Schwartz, and R. Curtis Rogers. "Creatine Transporter Deficiency." In Atlas of X-Linked Intellectual Disability Syndromes, 78–79. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199811793.003.0037.
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