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science & technology (62) 62
life sciences & biomedicine (60) 60
humans (43) 43
creatine (40) 40
gamt deficiency (35) 35
gamt (32) 32
animals (28) 28
guanidinoacetate n-methyltransferase - genetics (28) 28
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glycine - analogs & derivatives (22) 22
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transferases (20) 20
creatine - deficiency (18) 18
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guanidinoacetate n-methyltransferase - metabolism (16) 16
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endocrinology & metabolism (15) 15
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biochemistry, general (11) 11
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mutation (10) 10
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biological and medical sciences (9) 9
creatine deficiency (9) 9
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physiological aspects (9) 9
rats (9) 9
amidinotransferases - deficiency (8) 8
biochemistry & molecular biology (8) 8
clinical neurology (8) 8
creatine - genetics (8) 8
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methyltransferases - deficiency (8) 8
slc6a8 (8) 8
adolescent (7) 7
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glycine (7) 7
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plasma membrane neurotransmitter transport proteins - deficiency (7) 7
plasma membrane neurotransmitter transport proteins - genetics (7) 7
amino acid metabolism, inborn errors - genetics (6) 6
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cell biology (6) 6
creatine - biosynthesis (6) 6
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mental retardation, x-linked - genetics (6) 6
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plasma membrane neurotransmitter transport proteins - metabolism (6) 6
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amino acid metabolism, inborn errors - metabolism (5) 5
brain diseases, metabolic, inborn - metabolism (5) 5
creatine - blood (5) 5
disease models, animal (5) 5
dna mutational analysis (5) 5
epilepsy (5) 5
gamt-deficiency (5) 5
mental illness (5) 5
mental retardation, x-linked - metabolism (5) 5
methyltransferases - genetics (5) 5
movement disorders - diagnosis (5) 5
nerve tissue proteins - genetics (5) 5
neurobiology (5) 5
phosphocreatine (5) 5
rats, wistar (5) 5
treatment outcome (5) 5
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1. Full Text Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene
by Mahmutoglu, S and Ndika, J.D.T and Kanhai, W and de Villemeur, T.B and Cheillan, D and Christensen, E and Dorison, N and Hannig, V and Heniks, Y.M.C and Hofstede, F.C and Lion-Francois, L and Lund, A.M and Mundy, H and Pitelet, G and Raspall-Chaure, M and Scott-Schwoerer, J.A and Szakszon, K and Valayannopoulos, V and Williams, M and Salomons, G.S
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
GAMT | GAMT‐D | site‐directed mutagenesis | missense variants | GAMT-D | Missense variants | Site-directed mutagenesis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fibroblasts - enzymology | Genetic Predisposition to Disease | Guanidinoacetate N-Methyltransferase - genetics | Language Development Disorders - genetics | Movement Disorders - pathology | Humans | Language Development Disorders - pathology | Child, Preschool | Male | Mutation, Missense | Guanidinoacetate N-Methyltransferase - metabolism | Genetic Variation | Young Adult | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Adult | Female | Surveys and Questionnaires | Movement Disorders - genetics | Child | Analysis | Genes | Transferases | Lions | Physiological aspects | Nuclear magnetic resonance spectroscopy | Chemical properties | Enzymes | Nuclear magnetic resonance--NMR | Mutation | Index Medicus | Life Sciences
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2. Full Text Creatine deficiency syndromes and the importance of creatine synthesis in the brain
by Braissant, Olivier and Henry, Hugues and Béard, Elidie and Uldry, Joséphine
Amino acids, ISSN 0939-4451, 5/2011, Volume 40, Issue 5, pp. 1315 - 1324
Biochemistry, general | GAMT | Brain | Neurobiology | AGAT | Creatine | Guanidinoacetate | Life Sciences | Analytical Chemistry | SLC6A8 | Life Sciences, general | Proteomics | Biochemical Engineering | Creatine deficiency syndromes | Brain - metabolism | Animals | Deficiency Diseases - pathology | Humans | Creatine - metabolism | Brain - pathology | Deficiency Diseases - metabolism | Creatine - deficiency | Creatine - chemistry | Physiological aspects | Medical errors | Index Medicus
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3. Full Text Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
by Khaikin, Yannay and Sidky, Sarah and Abdenur, Jose and Anastasi, Arnaud and Ballhausen, Diana and Buoni, Sabrina and Chan, Alicia and Cheillan, David and Dorison, Nathalie and Goldenberg, Alice and Goldstein, Jennifer and Hofstede, Floris C and Jacquemont, Marie-Line and Koeberl, Dwight D and Lion-Francois, Laurence and Meldgaard Lund, Allan and Mention, Karine and Mundy, Helen and O'Rourke, Declan and Pitelet, Gaele and Raspall-Chaure, Miquel and Tassini, Maria and Billette de Villemeur, Thierry and Williams, Monique and Salomons, Gajja S and Mercimek-Anews, Saadet
European journal of paediatric neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, p. 369
Global developmental delay | Creatine therapy | GAMT deficiency | Seizure | Arginine-restricted diet
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4. Full Text Creatine and phosphocreatine mapping of mouse skeletal muscle by a polynomial and Lorentzian line‐shape fitting CEST method
by Chen, Lin and Barker, Peter B and Weiss, Robert G and van Zijl, Peter C. M and Xu, Jiadi
Magnetic resonance in medicine, ISSN 0740-3194, 01/2019, Volume 81, Issue 1, pp. 69 - 78
polynomial and Lorentzian line‐shape fitting | guanidinoacetate N‐methyltransferase deficiency mouse | magnetization transfer contrast | phosphate guanidinoacetate | phosphocreatine | creatine | guanidinoacetate | chemical exchange saturation transfer | guanidinoacetate N-methyltransferase deficiency mouse | polynomial and Lorentzian line-shape fitting | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Models, Theoretical | Magnetic Resonance Spectroscopy - methods | Creatine - analysis | Guanidinoacetate N-Methyltransferase - genetics | Phosphocreatine - blood | Muscle, Skeletal - metabolism | Phosphocreatine - analysis | Guanidinoacetate N-Methyltransferase - metabolism | Algorithms | Animals | Contrast Media | Female | Mice | Mice, Inbred BALB C | Phosphocreatine - analogs & derivatives | Phantoms, Imaging | Phosphates | Muscles | Magnetization | Creatine | Transferases | Methods | Brain | Methyltransferase | Calibration | Phosphocreatine | Skeletal muscle | Proteins | Musculoskeletal system | Maps | Magnetic resonance imaging | Mathematical analysis | Polynomials | In vivo methods and tests | Index Medicus | Magnetization Transfer Contrast (MTC) | mouse | Creatine (Cr) | Phosphate Guanidinoacetate (PGua) | Chemical Exchange Saturation Transfer (CEST) | Guanidinoacetate N-Methyltransferase deficiency (GAMT | Phosphocreatine (PCr) | Guanidinoacetate (Gua) | Polynomial and Lorentzian Line-shape Fitting (PLOF)
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5. Full Text Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study
by Khaikin, Yannay and Sidky, Sarah and Abdenur, Jose and Anastasi, Arnaud and Ballhausen, Diana and Buoni, Sabrina and Chan, Alicia and Cheillan, David and Dorison, Nathalie and Goldenberg, Alice and Goldstein, Jennifer and Hofstede, Floris C and Jacquemont, Marie-Line and Koeberl, Dwight D and Lion-Francois, Laurence and Lund, Allan Meldgaard and Mention, Karine and Mundy, Helen and O'Rourke, Declan and Pitelet, Gaele and Raspall-Chaure, Miquel and Tassini, Maria and Billette de Villemeur, Thierry and Williams, Monique and Salomons, Gajja S and Mercimek-Andrews, Saadet
European journal of paediatric neurology, ISSN 1090-3798, 05/2018, Volume 22, Issue 3, pp. 369 - 379
Creatine therapy | GAMT deficiency | Seizure | Global developmental delay | Arginine-restricted diet | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Transferases | Index Medicus
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6. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Index Medicus | Life Sciences
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7. Full Text Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease
by Mercimek-Mahmutoglu, S and Sinclair, G and van Dooren, S.J.M and Kanhai, W and Ashcraft, P and Michel, O.J and Nelson, J and Betsalel, O.T and Sweetman, L and Jakobs, C and Salomons, G.S
Molecular genetics and metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 433 - 437
Treatment of GAMT deficiency | Newborn screening | GAMT deficiency | Newborn blood spots | GAA | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Sequence Deletion | Language Development Disorders - blood | Guanidinoacetate N-Methyltransferase - genetics | Humans | Movement Disorders - diagnosis | Molecular Sequence Data | Male | Neonatal Screening | Creatine - blood | DNA Mutational Analysis | Language Development Disorders - diagnosis | Base Sequence | Adult | Female | Guanidinoacetate N-Methyltransferase - blood | Infant, Newborn | Language Development Disorders - genetics | Gene Frequency | Movement Disorders - blood | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Alleles | Heterozygote | Mutagenesis, Insertional | Movement Disorders - genetics | Early Diagnosis | Infants (Newborn) | Analysis | Transferases | Nitriles | Medical screening | Creatine | Mass spectrometry | Index Medicus | Neonates | Neurological complications | Insertion | Mutation | Guanidinoacetate N-methyltransferase | Blood | Metabolic disorders | Hereditary diseases
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8. Full Text A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
by Stockebrand, M and Sasani, Ali and Das, D and Hornig, Soenke and Hermans-Borgmeyer, I and Lake, Hannah A and Heerschap, A and Neu, A and Choe, C.-U
Frontiers in physiology, ISSN 1664-042X, 2018, Volume 9, pp. 773 - 773
Energy metabolism | Slc6a8 | In vivo magnetic spectroscopy | Creatine transporter | Guanidinoacetate N-methyltransferase (GAMT) | L-arginine:glycine amidinotransferase (AGAT) | Skeletal muscle | Glycine amidinotransferase (GATM) | Life Sciences & Biomedicine | Physiology | Science & Technology | Research | Bioenergetics | Creatine | Analysis | in vivo magnetic spectroscopy | creatine transporter | guanidinoacetate N-methyltransferase (GAMT) | skeletal muscle | energy metabolism
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9. Full Text Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation
by Ayanoğlu, Müge and Korgali, Elif and Sezer, Taner and Aydin, Halil Ibrahim and Sönmez, Fatma Müjgan
Brain & development (Tokyo. 1979), ISSN 0387-7604, 05/2020, Volume 42, Issue 5, pp. 418 - 420
Neuroleptic malignant syndrome | Guanidinoacetate methyltransferase (GAMT) deficiency | Normal creatine kinase levels | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Language Development Disorders - drug therapy | Creatine Kinase - blood | Dopamine Antagonists - adverse effects | Guanidinoacetate N-Methyltransferase - deficiency | Humans | Movement Disorders - congenital | Risperidone - adverse effects | Male | Child | Movement Disorders - drug therapy | Neuroleptic Malignant Syndrome - blood | Neuroleptic Malignant Syndrome - diagnosis
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