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guanidinoacetate methyltransferase (21) 21
methyltransferases - genetics (21) 21
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creatine - therapeutic use (19) 19
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Journal Article
Journal Article
Journal Article
NMR in Biomedicine, ISSN 0952-3480, 12/2017, Volume 30, Issue 12, pp. e3834 - n/a
The current study aims to assign and estimate the total creatine (tCr) signal contribution to the Z ‐spectrum in mouse brain at 11.7 T. Creatine (Cr),... 
Lorentzian line‐shape fitting | creatine | guanidinoacetate | phosphate creatine | magnetization transfer | magnetic resonance spectroscopy (MRS) | chemical exchange saturation transfer (CEST) | methyltransferase deficiency (GAMT−/−) | guanidinoacetate N-methyltransferase deficiency (GAMT−/−) | Lorentzian line-shape fitting | PH-WEIGHTED MRI | MAGNETIZATION-TRANSFER | NEUROCHEMICAL PROFILE | CHEMICAL-EXCHANGE | EXCHANGE SATURATION-TRANSFER | VIVO H-1-NMR SPECTROSCOPY | ROTATION TRANSFER | BIOPHYSICS | SPECTROSCOPY | guanidinoacetate N-methyltransferase deficiency (GAMT-/-) | IN-VIVO | RAT-BRAIN | AMIDE PROTON-TRANSFER | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Brain - metabolism | Animals | Magnetic Resonance Spectroscopy - methods | Creatine - metabolism | Female | Mice | Mice, Inbred BALB C | Phosphocreatine - metabolism | Mice, Knockout | Magnetization | Creatine | Nuclear magnetic resonance spectroscopy | Magnetic resonance spectroscopy | T-cell receptor | Spectroscopy | Spectrum analysis | N-Methyltransferase | Rodents | Methyltransferase | Brain mapping | Phosphocreatine | Guanidinoacetate N-methyltransferase | Index Medicus | Magnetic Resonance Spectroscopy (MRS) | Phosphate Creatine | Chemical Exchange Saturation Transfer (CEST) | Guanidinoacetate N-Methyltransferase deficiency (GAMT | Magnetization Transfer | Lorentzian Line-shape Fitting
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2014, Volume 111, Issue 1, pp. 16 - 25
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability... 
Creatine deficiency | Magnetic resonance spectroscopy | Treatment evidence | Autism | Neurodevelopmental outcome | Speech delay | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | ARGININE RESTRICTION | BIOCHEMISTRY & MOLECULAR BIOLOGY | PRESYMPTOMATIC TREATMENT | INBORN ERROR | INTELLECTUAL DISABILITY | GLOBAL DEVELOPMENTAL DELAY | METABOLISM | ORNITHINE | GENETICS & HEREDITY | BRAIN | Glycine - analogs & derivatives | Humans | Middle Aged | Movement Disorders - diagnosis | Child, Preschool | Infant | Male | Ornithine - therapeutic use | Language Development Disorders - therapy | Language Development Disorders - metabolism | Intellectual Disability - metabolism | Brain - metabolism | Young Adult | Glycine - cerebrospinal fluid | Language Development Disorders - diagnosis | Creatine - metabolism | Adult | Female | Child | Infant, Newborn | Glycine - blood | Treatment Outcome | Combined Modality Therapy | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - therapy | Movement Disorders - metabolism | Movement Disorders - therapy | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Adolescent | Sodium Benzoate - therapeutic use | Creatine - therapeutic use | Arginine - therapeutic use | Arginine - metabolism | Practice Guidelines as Topic | Transferases | Sodium benzoate | Index Medicus
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2014, Volume 35, Issue 4, pp. 462 - 469
Journal Article
Journal Article