creatine has been researched along with Movement Disorders in 50 studies
Movement Disorders: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Even though the diagnostic yield of urine creatine metabolite panel is low, it can successfully detect CCDD patients, despite many neurodevelopmental disorders are not a result of CCDD." | 7.96 | Urine creatine metabolite panel as a screening test in neurodevelopmental disorders. ( Bahl, S; Cordeiro, D; MacNeil, L; Mercimek-Andrews, S; Schulze, A, 2020) |
| "Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency." | 7.79 | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013) |
| "Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 6.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
| "Although epilepsy was not affected by orally administered creatine (400 to 500 mg/kg per day), this treatment resulted in clinical improvement and an increase of creatine in cerebrospinal fluid and brain tissue." | 5.30 | Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( Bachert, P; Bremer, HJ; De Deyn, PP; Hess, T; Knopp, MV; Marescau, B; Mayatepek, E; Rating, D; Schulze, A; Wevers, R, 1997) |
| "Even though the diagnostic yield of urine creatine metabolite panel is low, it can successfully detect CCDD patients, despite many neurodevelopmental disorders are not a result of CCDD." | 3.96 | Urine creatine metabolite panel as a screening test in neurodevelopmental disorders. ( Bahl, S; Cordeiro, D; MacNeil, L; Mercimek-Andrews, S; Schulze, A, 2020) |
| " Brain creatine depletion and guanidinoacetate accumulation cause developmental delay, seizures and movement disorder." | 3.88 | Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. ( Abdenur, J; Anastasi, A; Ballhausen, D; Billette de Villemeur, T; Buoni, S; Chan, A; Cheillan, D; Dorison, N; Goldenberg, A; Goldstein, J; Hofstede, FC; Jacquemont, ML; Khaikin, Y; Koeberl, DD; Lion-Francois, L; Lund, AM; Mention, K; Mercimek-Andrews, S; Mundy, H; O'Rourke, D; Pitelet, G; Raspall-Chaure, M; Salomons, GS; Sidky, S; Tassini, M; Williams, M, 2018) |
| "Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities." | 3.85 | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( Bodamer, O; Longo, N; Sharer, JD; Tortorelli, S; Wamelink, MM; Young, S, 2017) |
| "Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency." | 3.79 | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013) |
| "Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 2.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
| "Lack of CRE in the brain can cause intellectual disability, autistic-like behavior, seizures, and movement disorders." | 1.72 | Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency. ( Borden, K; Caggana, M; Morrissey, M; Showers, A; Sicko, R; Sunny, S; Teta, B; Wojcik, M, 2022) |
| "Treatment with creatine (250-1000 mg/kg/day), ornithine (100-800 mg/kg/day), and sodium benzoate (50-135 mg/kg/day) supplements along with dietary protein restriction (0." | 1.39 | Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. ( Botto, LD; Ernst, SL; Hedlund, G; Longo, N; Pasquali, M; Viau, KS, 2013) |
| "Severe expressive language delay is a constant feature even in the mildest clinical phenotypes." | 1.35 | Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language. ( Jakobs, C; King, MD; Monavari, A; O'Rourke, DJ; Ryan, S; Salomons, G, 2009) |
| "Although epilepsy was not affected by orally administered creatine (400 to 500 mg/kg per day), this treatment resulted in clinical improvement and an increase of creatine in cerebrospinal fluid and brain tissue." | 1.30 | Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. ( Bachert, P; Bremer, HJ; De Deyn, PP; Hess, T; Knopp, MV; Marescau, B; Mayatepek, E; Rating, D; Schulze, A; Wevers, R, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (10.00) | 18.2507 |
| 2000's | 5 (10.00) | 29.6817 |
| 2010's | 31 (62.00) | 24.3611 |
| 2020's | 9 (18.00) | 2.80 |
| Authors | Studies |
|---|---|
| Passi, GR | 1 |
| Pandey, S | 1 |
| Devi, ARR | 1 |
| Konanki, R | 1 |
| Jain, AR | 1 |
| Bhatnagar, S | 1 |
| Tripathi, R | 1 |
| Jain, V | 1 |
| Wojcik, M | 1 |
| Morrissey, M | 1 |
| Borden, K | 1 |
| Teta, B | 1 |
| Sicko, R | 1 |
| Showers, A | 1 |
| Sunny, S | 1 |
| Caggana, M | 1 |
| Ream, MA | 1 |
| Lam, WKK | 1 |
| Grosse, SD | 1 |
| Ojodu, J | 1 |
| Jones, E | 1 |
| Prosser, LA | 1 |
| Rose, AM | 1 |
| Comeau, AM | 1 |
| Tanksley, S | 1 |
| Powell, CM | 1 |
| Kemper, AR | 1 |
| Balestrino, M | 2 |
| Adriano, E | 2 |
| Sun, W | 2 |
| Wu, B | 2 |
| Wu, M | 1 |
| Yang, B | 1 |
| Zhang, P | 2 |
| Xiao, F | 1 |
| Shi, Y | 1 |
| Wu, H | 1 |
| Zhou, W | 1 |
| Bahl, S | 1 |
| Cordeiro, D | 1 |
| MacNeil, L | 1 |
| Schulze, A | 6 |
| Mercimek-Andrews, S | 2 |
| Branovets, J | 2 |
| Karro, N | 1 |
| Barsunova, K | 1 |
| Laasmaa, M | 1 |
| Lygate, CA | 2 |
| Vendelin, M | 2 |
| Birkedal, R | 2 |
| Rossi, L | 1 |
| Nardecchia, F | 1 |
| Pierigè, F | 1 |
| Ventura, R | 1 |
| Carducci, C | 2 |
| Leuzzi, V | 5 |
| Magnani, M | 1 |
| Cabib, S | 1 |
| Pascucci, T | 1 |
| Wang, Y | 1 |
| Zu, Z | 1 |
| Jiang, Y | 1 |
| Lu, W | 1 |
| Wang, H | 1 |
| Peng, X | 1 |
| Zhou, H | 1 |
| Gulino, M | 1 |
| Arkel, M | 1 |
| Salis, A | 1 |
| Damonte, G | 1 |
| Liessi, N | 1 |
| Millo, E | 1 |
| Garbati, P | 1 |
| Khaikin, Y | 1 |
| Sidky, S | 1 |
| Abdenur, J | 1 |
| Anastasi, A | 1 |
| Ballhausen, D | 1 |
| Buoni, S | 1 |
| Chan, A | 2 |
| Cheillan, D | 2 |
| Dorison, N | 1 |
| Goldenberg, A | 1 |
| Goldstein, J | 1 |
| Hofstede, FC | 1 |
| Jacquemont, ML | 1 |
| Koeberl, DD | 2 |
| Lion-Francois, L | 1 |
| Lund, AM | 1 |
| Mention, K | 1 |
| Mundy, H | 1 |
| O'Rourke, D | 1 |
| Pitelet, G | 1 |
| Raspall-Chaure, M | 1 |
| Tassini, M | 1 |
| Billette de Villemeur, T | 1 |
| Williams, M | 1 |
| Salomons, GS | 4 |
| Benoit, R | 1 |
| Samir, M | 1 |
| Boutin, J | 1 |
| Samuel, A | 1 |
| Brigitte, C | 1 |
| Dominique, D | 1 |
| Isabelle, RV | 1 |
| Pearson, TS | 1 |
| Pons, R | 1 |
| Ghaoui, R | 1 |
| Sue, CM | 1 |
| Demartini, B | 1 |
| Gambini, O | 1 |
| Uggetti, C | 1 |
| Cariati, M | 1 |
| Cadioli, M | 1 |
| Goeta, D | 1 |
| Marceglia, S | 1 |
| Ferrucci, R | 1 |
| Priori, A | 1 |
| Rostami, P | 1 |
| Hosseinpour, S | 1 |
| Ashrafi, MR | 1 |
| Alizadeh, H | 1 |
| Garshasbi, M | 1 |
| Tavasoli, AR | 1 |
| El-Gharbawy, AH | 1 |
| Goldstein, JL | 1 |
| Millington, DS | 1 |
| Vaisnins, AE | 1 |
| Schlune, A | 2 |
| Barshop, BA | 1 |
| Young, SP | 1 |
| Comeaux, MS | 1 |
| Wang, J | 1 |
| Wang, G | 1 |
| Kleppe, S | 1 |
| Zhang, VW | 1 |
| Schmitt, ES | 1 |
| Craigen, WJ | 1 |
| Renaud, D | 2 |
| Sun, Q | 1 |
| Wong, LJ | 1 |
| Sepp, M | 1 |
| Kotlyarova, S | 1 |
| Jepihhina, N | 1 |
| Sokolova, N | 1 |
| Aksentijevic, D | 1 |
| Neubauer, S | 1 |
| Viau, KS | 1 |
| Ernst, SL | 1 |
| Pasquali, M | 2 |
| Botto, LD | 1 |
| Hedlund, G | 1 |
| Longo, N | 4 |
| Stockler-Ipsiroglu, S | 2 |
| van Karnebeek, C | 1 |
| Korenke, GC | 1 |
| Mercimek-Mahmutoglu, S | 4 |
| Marquart, I | 1 |
| Barshop, B | 1 |
| Grolik, C | 2 |
| Angle, B | 1 |
| Araújo, HC | 2 |
| Coskun, T | 1 |
| Diogo, L | 1 |
| Geraghty, M | 1 |
| Haliloglu, G | 1 |
| Konstantopoulou, V | 1 |
| Levtova, A | 1 |
| Mackenzie, J | 1 |
| Maranda, B | 1 |
| Mhanni, AA | 1 |
| Mitchell, G | 1 |
| Morris, A | 1 |
| Newlove, T | 1 |
| Scaglia, F | 1 |
| Valayannopoulos, V | 1 |
| van Spronsen, FJ | 1 |
| Verbruggen, KT | 1 |
| Yuskiv, N | 1 |
| Nyhan, W | 1 |
| Braissant, O | 3 |
| Schwarz, E | 1 |
| Jensen, M | 1 |
| Yuzyuk, T | 1 |
| DeBiase, I | 1 |
| Randall, H | 1 |
| Pitt, JJ | 1 |
| Tzanakos, N | 1 |
| Nguyen, T | 1 |
| Ma, Y | 1 |
| Zhan, M | 1 |
| OuYang, L | 1 |
| Li, Y | 1 |
| Chen, S | 1 |
| Wu, J | 1 |
| Chen, J | 1 |
| Luo, C | 1 |
| Lei, W | 1 |
| Tran, C | 1 |
| Yazdanpanah, M | 1 |
| Kyriakopoulou, L | 1 |
| Levandovskiy, V | 1 |
| Zahid, H | 1 |
| Naufer, A | 1 |
| Isbrandt, D | 1 |
| van Karnebeek, CD | 1 |
| Iqbal, S | 1 |
| Ali, M | 1 |
| Iqbal, F | 2 |
| Clark, JF | 1 |
| Cecil, KM | 1 |
| Joncquel-Chevalier Curt, M | 1 |
| Voicu, PM | 1 |
| Fontaine, M | 1 |
| Dessein, AF | 1 |
| Porchet, N | 1 |
| Mention-Mulliez, K | 1 |
| Dobbelaere, D | 1 |
| Soto-Ares, G | 1 |
| Vamecq, J | 1 |
| Hanna-El-Daher, L | 1 |
| Pacheva, I | 1 |
| Ivanov, I | 1 |
| Penkov, M | 1 |
| Kancheva, D | 1 |
| Jordanova, A | 1 |
| Ivanova, M | 1 |
| Sharer, JD | 1 |
| Bodamer, O | 1 |
| Tortorelli, S | 1 |
| Wamelink, MM | 1 |
| Young, S | 1 |
| Stern, WM | 1 |
| Winston, JS | 1 |
| Murphy, E | 1 |
| Cross, JH | 1 |
| Sander, JW | 1 |
| O'Rourke, DJ | 1 |
| Ryan, S | 1 |
| Salomons, G | 1 |
| Jakobs, C | 3 |
| Monavari, A | 1 |
| King, MD | 1 |
| Nasrallah, F | 1 |
| Feki, M | 1 |
| Kaabachi, N | 1 |
| Boenzi, S | 1 |
| Pastore, A | 1 |
| Martinelli, D | 1 |
| Goffredo, BM | 1 |
| Boiani, A | 1 |
| Rizzo, C | 1 |
| Dionisi-Vici, C | 1 |
| Sinclair, G | 1 |
| van Dooren, SJ | 1 |
| Kanhai, W | 1 |
| Ashcraft, P | 1 |
| Michel, OJ | 1 |
| Nelson, J | 1 |
| Betsalel, OT | 1 |
| Sweetman, L | 1 |
| Mastrangelo, M | 1 |
| Battini, R | 1 |
| Cioni, G | 2 |
| Sun, Z | 1 |
| Yang, X | 1 |
| Ye, H | 1 |
| Zhou, G | 1 |
| Jiang, H | 1 |
| Stoeckler-Ipsiroglu, S | 1 |
| Adami, A | 1 |
| Appleton, R | 1 |
| Duran, M | 1 |
| Ensenauer, R | 1 |
| Fernandez-Alvarez, E | 1 |
| Garcia, P | 1 |
| Item, CB | 1 |
| Marquardt, I | 1 |
| Mühl, A | 1 |
| Saelke-Kellermann, RA | 1 |
| Surtees, R | 1 |
| van der Knaap, MS | 1 |
| Vasconcelos, R | 1 |
| Verhoeven, NM | 1 |
| Vilarinho, L | 1 |
| Wilichowski, E | 1 |
| Henry, H | 1 |
| Stöckler, S | 1 |
| Marescau, B | 2 |
| De Deyn, PP | 2 |
| Trijbels, JM | 1 |
| Hanefeld, F | 2 |
| Hess, T | 1 |
| Wevers, R | 1 |
| Mayatepek, E | 1 |
| Bachert, P | 1 |
| Knopp, MV | 1 |
| Bremer, HJ | 1 |
| Rating, D | 1 |
| Kim, MO | 1 |
| Im, JH | 1 |
| Choi, CG | 1 |
| Lee, MC | 1 |
| Taylor-Robinson, SD | 1 |
| Turjanski, N | 1 |
| Bhattacharya, S | 1 |
| Seery, JP | 1 |
| Sargentoni, J | 1 |
| Brooks, DJ | 1 |
| Bryant, DJ | 1 |
| Cox, IJ | 1 |
| Pouwels, PJ | 1 |
| Brockmann, K | 1 |
| Kruse, B | 1 |
| Wilken, B | 1 |
| Wick, M | 1 |
| Frahm, J | 1 |
| Shear, DA | 1 |
| Haik, KL | 1 |
| Dunbar, GL | 1 |
| Bianchi, MC | 1 |
| Tosetti, M | 1 |
| Cerquiglini, CA | 1 |
| Antonozzi, I | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| The Effect of Creatine Monohydrate on Persistent Post-concussive Symptoms - a Pilot Study Protocol[NCT05562232] | 45 participants (Anticipated) | Interventional | 2022-10-01 | Not yet recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
11 reviews available for creatine and Movement Disorders
| Article | Year |
|---|---|
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
Topics: Animals; Brain; Creatine; Disease Models, Animal; Guanidinoacetate N-Methyltransferase; Intellectual | 2021 |
Genetic mimics of cerebral palsy.
Topics: Adenylyl Cyclases; Ataxia; Ataxia Telangiectasia; Brain; Brain Diseases, Metabolic, Inborn; Carbohyd | 2019 |
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Topics: Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Creatine; Delayed Diagnosis; Development | 2020 |
Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
Topics: Amidinotransferases; Brain Diseases, Metabolic, Inborn; Creatine; Guanidinoacetate N-Methyltransfera | 2014 |
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2015 |
Creatine biosynthesis and transport in health and disease.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP- | 2015 |
Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.
Topics: Arginine; Creatine; Dietary Proteins; Dietary Supplements; Energy Metabolism; Genetic Predisposition | 2015 |
Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain Disea | 2016 |
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Autistic Disorder; Child; Creatine; Epile | 2010 |
Inborn errors of creatine metabolism and epilepsy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inbor | 2013 |
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D | 2008 |
39 other studies available for creatine and Movement Disorders
| Article | Year |
|---|---|
Cerebral creatine deficiency disorders - A clinical, genetic and follow up study from India.
Topics: Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Creatine; Female; Follow-Up Studies; Gua | 2022 |
Method modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency.
Topics: Creatine; Guanidinoacetate N-Methyltransferase; Humans; Infant, Newborn; Intellectual Disability; La | 2022 |
Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Topics: Child; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Infant, Newborn; Language Development | 2023 |
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
[Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2].
Topics: Brain Diseases, Metabolic, Inborn; Creatine; Female; Guanidinoacetate N-Methyltransferase; Humans; I | 2020 |
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Topics: Brain Diseases, Metabolic, Inborn; Canada; Creatine; Female; Guanidinoacetate N-Methyltransferase; H | 2020 |
Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency.
Topics: Adenosine Diphosphate; Adenylate Kinase; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; | 2021 |
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.
Topics: Child, Preschool; Creatine; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Guanidinoac | 2017 |
Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency.
Topics: Animals; Brain; Brain Diseases, Metabolic, Inborn; Creatine; Guanidinoacetate N-Methyltransferase; L | 2018 |
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Topics: Cohort Studies; Creatine; Diet, Protein-Restricted; Female; Guanidinoacetate N-Methyltransferase; Hu | 2018 |
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Topics: Chromatography, High Pressure Liquid; Clinical Laboratory Techniques; Creatine; Glycine; Guanidinoac | 2019 |
Limbic neurochemical changes in patients with functional motor symptoms.
Topics: Adult; Affective Symptoms; Anxiety; Case-Control Studies; Creatine; Depression; Female; Glutamic Aci | 2019 |
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Topics: Case-Control Studies; Child, Preschool; Creatine; Dried Blood Spot Testing; Early Diagnosis; Female; | 2013 |
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2013 |
Unchanged mitochondrial organization and compartmentation of high-energy phosphates in creatine-deficient GAMT-/- mouse hearts.
Topics: Adenosine Diphosphate; Adenosine Triphosphatases; Adenosine Triphosphate; Animals; Creatine; Creatin | 2013 |
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency.
Topics: Creatine; Diet, Protein-Restricted; Female; Genotype; Guanidinoacetate N-Methyltransferase; Humans; | 2013 |
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Topics: Adolescent; Adult; Arginine; Brain; Child; Child, Preschool; Combined Modality Therapy; Creatine; Fe | 2014 |
GAMT deficiency: 20 years of a treatable inborn error of metabolism.
Topics: Arginine; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectual Disa | 2014 |
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Topics: Brain; Creatine; Dried Blood Spot Testing; False Positive Reactions; Feasibility Studies; Glycine; G | 2014 |
Newborn screening for guanidinoacetate methyl transferase deficiency.
Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua | 2014 |
The effects of unilateral 6-OHDA lesion in medial forebrain bundle on the motor, cognitive dysfunctions and vulnerability of different striatal interneuron types in rats.
Topics: Adrenergic Agents; Animals; Apomorphine; Choline O-Acetyltransferase; Cognition Disorders; Corpus St | 2014 |
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
Topics: Amino Acids; Child; Creatine; Dietary Supplements; Female; Food Preservatives; Guanidinoacetate N-Me | 2014 |
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Liquid; Creatine | 2014 |
Long term creatine monohydrate supplementation, following neonatal hypoxic ischemic insult, improves neuromuscular coordination and spatial learning in male albino mouse.
Topics: Animals; Body Weight; Carotid Artery Diseases; Creatine; Disease Models, Animal; Hypoxia-Ischemia, B | 2015 |
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.
Topics: Child; Child Behavior; Child, Preschool; Creatine; Developmental Disabilities; Guanidinoacetate N-Me | 2016 |
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Clinic | 2017 |
Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.
Topics: Adult; Creatine; Epilepsy; Guanidinoacetate N-Methyltransferase; Humans; Language Development Disord | 2017 |
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Topics: Administration, Oral; Adolescent; Age of Onset; Biomarkers; Brain; Creatine; Creatinine; Female; Gua | 2009 |
Creatine metabolism in urea cycle defects.
Topics: Adolescent; Adult; Amidinotransferases; Arginine; Child; Child, Preschool; Creatine; Female; Guanidi | 2012 |
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Topics: Adult; Alleles; Base Sequence; Creatine; DNA Mutational Analysis; Early Diagnosis; Female; Gene Freq | 2012 |
Delayed encephalopathy with movement disorder and catatonia: a rare combination after wasp stings.
Topics: Adult; Animals; Brain; Catatonia; Creatine; Electrocardiography; Electroencephalography; Globus Pall | 2013 |
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
Topics: Adolescent; Adult; Child; Creatine; Epilepsy; Female; Glycine; Guanidinoacetate N-Methyltransferase; | 2006 |
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Creatine; Creatinine; Guanidines; Guanid | 1997 |
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cells, Cultured; Child, Preschool; Creatine; Creatinine | 1997 |
Proton MR spectroscopic findings in paroxysmal kinesigenic dyskinesia.
Topics: Acetylcholine; Adolescent; Adult; Aged; Basal Ganglia; Brain; Brain Mapping; Choline; Creatine; Domi | 1998 |
A proton magnetic resonance spectroscopy study of the striatum and cerebral cortex in Parkinson's disease.
Topics: Aged; Aspartic Acid; Cerebral Cortex; Choline; Corpus Striatum; Creatine; Female; Glutamic Acid; Glu | 1999 |
Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS.
Topics: Adolescent; Age Factors; Aspartic Acid; Basal Ganglia; Brain; Brain Neoplasms; Cerebellum; Child; Ch | 1999 |
Creatine reduces 3-nitropropionic-acid-induced cognitive and motor abnormalities in rats.
Topics: Animals; Behavior, Animal; Cerebral Ventricles; Cognition Disorders; Corpus Striatum; Creatine; Male | 2000 |
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Topics: Brain Chemistry; Child, Preschool; Creatine; Epilepsy; Guanidinoacetate N-Methyltransferase; Humans; | 2000 |