creatine has been researched along with Intellectual Disability in 62 studies
Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures." | 8.12 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. ( Chen, Z; Cheng, Y; Dong, H; Gu, F; Shen, M; Tian, Y; Yang, G; Yang, K; Yang, Y; Yin, C; Zhang, C, 2022) |
| "The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability." | 7.85 | Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. ( Dörr, HG; Heussinger, N; Mennecke, A; Saake, M; Trollmann, R, 2017) |
| "Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment." | 7.83 | A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. ( Alessandrì, MG; Baroncelli, L; Cacciante, F; Cioni, G; Leuzzi, V; Molinaro, A; Napoli, D; Pizzorusso, T; Putignano, E; Tola, J, 2016) |
| "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) |
| " We observed mild cerebral and cerebellar atrophy and infarct at bilateral posterior putamen and insular cortex localization on conventional images and elevated choline/creatine ratios and abnormal peak at 3." | 7.74 | Neuroimaging findings in hyperargininemia. ( Akinci, A; Alkan, A; Firat, AK; Güngör, S; Tabel, Y, 2008) |
| "We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter." | 7.71 | X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( Ball, WS; Cecil, KM; Degrauw, TJ; Jakobs, C; Salomons, GS; van Dooren, SJ; Verhoeven, NM, 2001) |
| "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) |
| "Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability." | 5.41 | X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease. ( Boer, VO; Fenger, CD; Grønborg, SW; Hammer, TB; Lund, A; Mejdahl Nielsen, M; Petersen, ET; Považan, M; Siebner, HR; Ørngreen, MC, 2023) |
| "Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency." | 4.90 | X-linked creatine transporter deficiency: clinical aspects and pathophysiology. ( Mancini, GM; Salomons, GS; van de Kamp, JM, 2014) |
| "Cerebral creatine deficiency syndrome (CCDS) is an inborn error of metabolism characterized by intellectual delays, seizures, and autistic-like behavior." | 4.31 | Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination. ( Albanese, C; Gentile, T; Hu, J; Huang, JK; Lee, Y; Manavi, Z; Melchor, GS; Rodriguez, O; Rosko, LM; Shults, NV; Smith, VN, 2023) |
| "Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures." | 4.12 | Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome. ( Chen, Z; Cheng, Y; Dong, H; Gu, F; Shen, M; Tian, Y; Yang, G; Yang, K; Yang, Y; Yin, C; Zhang, C, 2022) |
| "l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies." | 3.96 | Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ( Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T, 2020) |
| "X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems." | 3.88 | A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. ( Li, X; Liu, Y; Luo, F; Wang, Q; Xie, J; Yang, J, 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) |
| "The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability." | 3.85 | Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity. ( Dörr, HG; Heussinger, N; Mennecke, A; Saake, M; Trollmann, R, 2017) |
| "Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os." | 3.85 | Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( Alessandrì, MG; Battini, R; Casalini, C; Casarano, M; Cioni, G; Tosetti, M, 2017) |
| "Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene." | 3.83 | Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. ( Carrillo, N; DʼSouza, P; Himelstein, D; Jiang, S; Longo, N; Olatunji, D; Pasquali, M; Rennert, O; Salomons, GS; Swedo, S; Thurm, A, 2016) |
| "Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioural disturbances, language and speech impairment." | 3.83 | A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging. ( Alessandrì, MG; Baroncelli, L; Cacciante, F; Cioni, G; Leuzzi, V; Molinaro, A; Napoli, D; Pizzorusso, T; Putignano, E; Tola, J, 2016) |
| "The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy." | 3.81 | Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. ( Anselm, I; Errami, A; Howidi, M; Mancini, GM; Osaka, H; Phalin-Roque, J; Salomons, GS; Steinberg, SJ; van de Kamp, JM; van Dooren, SJ; Winter, S, 2015) |
| "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) |
| "Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability." | 3.79 | Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. ( Cui, H; Hill, A; Sinclair, G; van Karnebeek, C; Wong, LJ; Yu, H; Zhang, VW, 2013) |
| "We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism." | 3.74 | Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( Arias, A; Artuch, R; Briones, P; Campistol, J; Corbella, M; Fons, C; García-Villoria, J; Ormazabal, A; Pàmpols, T; Pineda, M; Poo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA, 2007) |
| " We observed mild cerebral and cerebellar atrophy and infarct at bilateral posterior putamen and insular cortex localization on conventional images and elevated choline/creatine ratios and abnormal peak at 3." | 3.74 | Neuroimaging findings in hyperargininemia. ( Akinci, A; Alkan, A; Firat, AK; Güngör, S; Tabel, Y, 2008) |
| "We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter." | 3.71 | X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( Ball, WS; Cecil, KM; Degrauw, TJ; Jakobs, C; Salomons, GS; van Dooren, SJ; Verhoeven, NM, 2001) |
| " AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e." | 2.61 | Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. ( Ostojic, SM, 2019) |
| "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) |
| "The sister showed additional muscular hypotonia and more pronounced dysmorphic features compared to her brother." | 1.62 | Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. ( Boy, N; Brugger, M; Brunet, T; Orec, LE; Schwaibold, EMC; Wagner, M, 2021) |
| "Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy." | 1.42 | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. ( Apatean, D; Battini, R; DeBrosse, S; Dessoffy, K; Dowling, MD; Edvardson, S; Eichler, F; Johnston, K; Koeller, DM; Nouioua, S; Stockler-Ipsiroglu, S; Tazir, M; Verma, A; Wierenga, AM; Wierenga, KJ; Wong, LJ; Zhang, V, 2015) |
| "Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by creatine kinase." | 1.39 | Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake. ( Choe, CU; Heerschap, A; Isbrandt, D; Kan, HE; Kemp, GJ; Matschke, J; Nabuurs, CI; Rodenburg, RJ; van Loon, LJ; Veltien, A; Wieringa, B, 2013) |
| "In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism." | 1.31 | Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( Alessandrì, MG; Bianchi, MC; Cioni, G; Fornai, F; Item, CB; Mühl, A; Stöckler-Ipsiroglu, S; Stromberger, C; Tosetti, M, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (9.68) | 18.7374 |
| 1990's | 3 (4.84) | 18.2507 |
| 2000's | 10 (16.13) | 29.6817 |
| 2010's | 30 (48.39) | 24.3611 |
| 2020's | 13 (20.97) | 2.80 |
| Authors | Studies |
|---|---|
| Wojcik, M | 1 |
| Morrissey, M | 1 |
| Borden, K | 1 |
| Teta, B | 1 |
| Sicko, R | 1 |
| Showers, A | 1 |
| Sunny, S | 1 |
| Caggana, M | 1 |
| Shen, M | 1 |
| Yang, G | 1 |
| Chen, Z | 1 |
| Yang, K | 1 |
| Dong, H | 1 |
| Yin, C | 1 |
| Cheng, Y | 1 |
| Zhang, C | 1 |
| Gu, F | 1 |
| Yang, Y | 1 |
| Tian, Y | 1 |
| Rosko, LM | 1 |
| Gentile, T | 1 |
| Smith, VN | 1 |
| Manavi, Z | 1 |
| Melchor, GS | 1 |
| Hu, J | 1 |
| Shults, NV | 1 |
| Albanese, C | 1 |
| Lee, Y | 1 |
| Rodriguez, O | 1 |
| Huang, JK | 1 |
| Mejdahl Nielsen, M | 1 |
| Petersen, ET | 1 |
| Fenger, CD | 1 |
| Ørngreen, MC | 1 |
| Siebner, HR | 1 |
| Boer, VO | 1 |
| Považan, M | 1 |
| Lund, A | 1 |
| Grønborg, SW | 1 |
| Hammer, TB | 1 |
| Broca-Brisson, L | 1 |
| Harati, R | 1 |
| Disdier, C | 1 |
| Mozner, O | 1 |
| Gaston-Breton, R | 1 |
| Maïza, A | 1 |
| Costa, N | 1 |
| Guyot, AC | 1 |
| Sarkadi, B | 1 |
| Apati, A | 1 |
| Skelton, MR | 1 |
| Madrange, L | 1 |
| Yates, F | 1 |
| Armengaud, J | 1 |
| Hamoudi, R | 1 |
| Mabondzo, A | 1 |
| Balestrino, M | 1 |
| Adriano, E | 1 |
| Jensen, M | 1 |
| Müller, C | 1 |
| Schwedhelm, E | 2 |
| Arunachalam, P | 1 |
| Gelderblom, M | 1 |
| Magnus, T | 1 |
| Gerloff, C | 2 |
| Zeller, T | 1 |
| Choe, CU | 3 |
| Neu, A | 1 |
| Hornig, S | 1 |
| Sasani, A | 1 |
| Isbrandt, D | 3 |
| Tsikas, D | 1 |
| Alessandrì, MG | 4 |
| Strigini, F | 1 |
| Cioni, G | 5 |
| Battini, R | 4 |
| Yıldız, Y | 1 |
| Göçmen, R | 1 |
| Yaramış, A | 1 |
| Coşkun, T | 2 |
| Haliloğlu, G | 2 |
| Brugger, M | 1 |
| Brunet, T | 1 |
| Wagner, M | 1 |
| Orec, LE | 1 |
| Schwaibold, EMC | 1 |
| Boy, N | 1 |
| Branovets, J | 1 |
| Karro, N | 1 |
| Barsunova, K | 1 |
| Laasmaa, M | 1 |
| Lygate, CA | 1 |
| Vendelin, M | 1 |
| Birkedal, R | 1 |
| Rossi, L | 1 |
| Nardecchia, F | 1 |
| Pierigè, F | 1 |
| Ventura, R | 1 |
| Carducci, C | 1 |
| Leuzzi, V | 4 |
| Magnani, M | 1 |
| Cabib, S | 1 |
| Pascucci, T | 1 |
| Ostojic, SM | 1 |
| Bruun, TUJ | 1 |
| Sidky, S | 1 |
| Bandeira, AO | 1 |
| Debray, FG | 1 |
| Ficicioglu, C | 1 |
| Goldstein, J | 1 |
| Joost, K | 1 |
| Koeberl, DD | 1 |
| Luísa, D | 1 |
| Nassogne, MC | 1 |
| O'Sullivan, S | 1 |
| Õunap, K | 1 |
| Schulze, A | 4 |
| van Maldergem, L | 1 |
| Salomons, GS | 9 |
| Mercimek-Andrews, S | 1 |
| Wang, Q | 1 |
| Yang, J | 1 |
| Liu, Y | 1 |
| Li, X | 1 |
| Luo, F | 1 |
| Xie, J | 1 |
| Comeaux, MS | 1 |
| Wang, J | 1 |
| Wang, G | 1 |
| Kleppe, S | 1 |
| Zhang, VW | 2 |
| Schmitt, ES | 1 |
| Craigen, WJ | 1 |
| Renaud, D | 2 |
| Sun, Q | 1 |
| Wong, LJ | 3 |
| Nouioua, S | 2 |
| Cheillan, D | 4 |
| Zaouidi, S | 1 |
| Amedjout, N | 1 |
| Kessaci, F | 1 |
| Boulahdour, N | 1 |
| Hamadouche, T | 1 |
| Tazir, M | 2 |
| Yu, H | 1 |
| van Karnebeek, C | 2 |
| Sinclair, G | 1 |
| Hill, A | 1 |
| Cui, H | 1 |
| Stockler-Ipsiroglu, S | 5 |
| Longo, N | 3 |
| Korenke, GC | 1 |
| Mercimek-Mahmutoglu, S | 1 |
| Marquart, I | 1 |
| Barshop, B | 1 |
| Grolik, C | 1 |
| Schlune, A | 1 |
| Angle, B | 1 |
| Araújo, HC | 1 |
| Diogo, L | 1 |
| Geraghty, M | 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 | 3 |
| van Spronsen, FJ | 1 |
| Verbruggen, KT | 1 |
| Yuskiv, N | 1 |
| Nyhan, W | 1 |
| Braissant, O | 3 |
| Pitt, JJ | 1 |
| Tzanakos, N | 1 |
| Nguyen, T | 1 |
| van de Kamp, JM | 2 |
| Errami, A | 1 |
| Howidi, M | 1 |
| Anselm, I | 1 |
| Winter, S | 1 |
| Phalin-Roque, J | 1 |
| Osaka, H | 1 |
| van Dooren, SJ | 2 |
| Mancini, GM | 2 |
| Steinberg, SJ | 1 |
| Tran, C | 1 |
| Yazdanpanah, M | 1 |
| Kyriakopoulou, L | 1 |
| Levandovskiy, V | 1 |
| Zahid, H | 1 |
| Naufer, A | 1 |
| van Karnebeek, CD | 1 |
| Clark, JF | 1 |
| Cecil, KM | 2 |
| Apatean, D | 1 |
| DeBrosse, S | 1 |
| Dessoffy, K | 1 |
| Edvardson, S | 1 |
| Eichler, F | 1 |
| Johnston, K | 1 |
| Koeller, DM | 1 |
| Verma, A | 1 |
| Dowling, MD | 1 |
| Wierenga, KJ | 1 |
| Wierenga, AM | 1 |
| Zhang, V | 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 |
| Thurm, A | 1 |
| Himelstein, D | 1 |
| DʼSouza, P | 1 |
| Rennert, O | 1 |
| Jiang, S | 1 |
| Olatunji, D | 1 |
| Pasquali, M | 1 |
| Swedo, S | 1 |
| Carrillo, N | 1 |
| Baroncelli, L | 1 |
| Molinaro, A | 1 |
| Cacciante, F | 1 |
| Napoli, D | 1 |
| Putignano, E | 1 |
| Tola, J | 1 |
| Pizzorusso, T | 1 |
| Sharer, JD | 1 |
| Bodamer, O | 1 |
| Tortorelli, S | 1 |
| Wamelink, MM | 1 |
| Young, S | 1 |
| Heussinger, N | 1 |
| Saake, M | 1 |
| Mennecke, A | 1 |
| Dörr, HG | 1 |
| Trollmann, R | 1 |
| Casalini, C | 1 |
| Casarano, M | 1 |
| Tosetti, M | 3 |
| Boddaert, N | 2 |
| Mention, K | 1 |
| Touati, G | 1 |
| Barbier, V | 2 |
| Chabli, A | 2 |
| Sedel, F | 1 |
| Kaplan, J | 1 |
| Dufier, JL | 1 |
| Seidenwurm, D | 1 |
| Rabier, D | 1 |
| Saudubray, JM | 1 |
| de Lonlay, P | 2 |
| Sempere, A | 2 |
| Arias, A | 2 |
| Farré, G | 1 |
| García-Villoria, J | 2 |
| Rodríguez-Pombo, P | 1 |
| Desviat, LR | 1 |
| Merinero, B | 1 |
| García-Cazorla, A | 1 |
| Vilaseca, MA | 2 |
| Ribes, A | 2 |
| Artuch, R | 2 |
| Campistol, J | 2 |
| Nasrallah, F | 1 |
| Feki, M | 1 |
| Kaabachi, N | 1 |
| Striano, P | 1 |
| Morana, G | 1 |
| Pezzella, M | 1 |
| Bellini, T | 1 |
| Rossi, A | 1 |
| Desguerre, I | 1 |
| Philippe, A | 1 |
| Afenjar, A | 1 |
| Mazzuca, M | 1 |
| Munnich, A | 1 |
| de Keyzer, Y | 1 |
| Jakobs, C | 4 |
| Nabuurs, CI | 1 |
| Veltien, A | 1 |
| Kan, HE | 1 |
| van Loon, LJ | 1 |
| Rodenburg, RJ | 1 |
| Matschke, J | 1 |
| Wieringa, B | 1 |
| Kemp, GJ | 1 |
| Heerschap, A | 1 |
| Mastrangelo, M | 1 |
| Snow, RJ | 1 |
| Vogel, F | 1 |
| Mex, A | 1 |
| Hirsch, W | 1 |
| STAMBAUGH, R | 1 |
| DAVIDSON, DT | 1 |
| Alkan, A | 2 |
| Kutlu, R | 1 |
| Aslan, M | 1 |
| Sigirci, A | 1 |
| Orkan, I | 1 |
| Yakinci, C | 1 |
| Lion-François, L | 1 |
| Pitelet, G | 1 |
| Acquaviva-Bourdain, C | 1 |
| Bussy, G | 1 |
| Cotton, F | 1 |
| Guibaud, L | 1 |
| Gérard, D | 1 |
| Rivier, C | 1 |
| Vianey-Saban, C | 1 |
| des Portes, V | 1 |
| Corbella, M | 1 |
| Fons, C | 1 |
| Ormazabal, A | 1 |
| Poo, P | 1 |
| Pineda, M | 1 |
| Briones, P | 1 |
| Pàmpols, T | 1 |
| Güngör, S | 1 |
| Akinci, A | 1 |
| Firat, AK | 1 |
| Tabel, Y | 1 |
| Henry, H | 1 |
| Hashimoto, T | 2 |
| Tayama, M | 2 |
| Miyazaki, M | 2 |
| Yoneda, Y | 2 |
| Yoshimoto, T | 2 |
| Harada, M | 2 |
| Miyoshi, H | 2 |
| Tanouchi, M | 2 |
| Kuroda, Y | 2 |
| Pouwels, PJ | 2 |
| Brockmann, K | 1 |
| Kruse, B | 1 |
| Wilken, B | 1 |
| Wick, M | 1 |
| Hanefeld, F | 1 |
| Frahm, J | 1 |
| Bianchi, MC | 2 |
| Fornai, F | 2 |
| Alessandri', MG | 1 |
| Cipriani, P | 1 |
| De Vito, G | 1 |
| Canapicchi, R | 1 |
| van der Knaap, MS | 1 |
| Verhoeven, NM | 2 |
| Maaswinkel-Mooij, P | 1 |
| Onkenhout, W | 1 |
| Peeters, EA | 1 |
| Ball, WS | 1 |
| Degrauw, TJ | 1 |
| Item, CB | 1 |
| Stromberger, C | 1 |
| Mühl, A | 1 |
| Hatano, H | 1 |
| Ohkido, M | 1 |
| Matsuo, I | 1 |
| Arai, R | 1 |
| Mamiya, G | 1 |
| Dekaban, AS | 1 |
| Holden, KR | 1 |
| Constantopoulos, G | 1 |
| Rowland, LP | 1 |
| Pscheidt, GR | 1 |
| Berlet, HH | 1 |
| Spaide, J | 1 |
| Himwich, HE | 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 | |||
| Clinical and Immunological Investigations of Subtypes of Autism[NCT00298246] | 557 participants (Actual) | Observational | 2006-02-22 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
13 reviews available for creatine and Intellectual Disability
| Article | Year |
|---|---|
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Topics: Brain Diseases, Metabolic, Inborn; Creatine; Female; Humans; Intellectual Disability; Male; Mental R | 2023 |
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 |
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Clinical Trials as Topic; Creatine; Devel | 2019 |
Creatine deficiency syndromes.
Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err | 2013 |
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inborn; Creatine; Genetic | 2014 |
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 |
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 |
Muscular dystrophies.
Topics: Alopecia; Creatine; Diagnosis, Differential; Electromyography; Eye Manifestations; Facial Paralysis; | 1972 |
49 other studies available for creatine and Intellectual Disability
| Article | Year |
|---|---|
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 |
Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.
Topics: Brain Diseases, Metabolic, Inborn; Child; Creatine; Guanidinoacetate N-Methyltransferase; Humans; In | 2022 |
Cerebral Creatine Deficiency Affects the Timing of Oligodendrocyte Myelination.
Topics: Animals; Creatine; Demyelinating Diseases; Female; Homozygote; Intellectual Disability; Male; Mice; | 2023 |
Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency.
Topics: Brain; Creatine; Glycogen Synthase Kinase 3 beta; Humans; Intellectual Disability; Mental Retardatio | 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 |
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel | 2020 |
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Creatine; Developmental Disabilities; Fem | 2020 |
Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.
Topics: Autism Spectrum Disorder; Brain; Brain Diseases, Metabolic, Inborn; Child; Creatine; Creatinine; Dis | 2020 |
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Topics: Autism Spectrum Disorder; Brain Diseases, Metabolic, Inborn; Child; Chromosomes, Human, Pair 16; Com | 2021 |
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 |
Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
Topics: Adolescent; Adult; Arginine; Child; Child, Preschool; Creatine; Creatinine; Female; Genotype; Glycin | 2018 |
A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
Topics: Asian People; Base Sequence; Brain Diseases, Metabolic, Inborn; Child, Preschool; Chromosomes, Human | 2018 |
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 |
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Creatine; Developmental Dis | 2013 |
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Topics: Brain Diseases, Metabolic, Inborn; Child, Preschool; Creatine; Exons; Gene Duplication; Genetic Dise | 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 |
Newborn screening for guanidinoacetate methyl transferase deficiency.
Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua | 2014 |
Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
Topics: Adrenoleukodystrophy; Adult; ATP Binding Cassette Transporter, Subfamily D, Member 1; ATP-Binding Ca | 2015 |
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 |
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2015 |
Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
Topics: Autism Spectrum Disorder; Brain Diseases, Metabolic, Inborn; Child; Creatine; Developmental Disabili | 2016 |
A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.
Topics: Aging; Animals; Brain; Brain Diseases, Metabolic, Inborn; Cognitive Dysfunction; Creatine; Disease M | 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 |
Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
Topics: Adolescent; Atrophy; Brain Diseases, Metabolic, Inborn; Child; Creatine; Female; Genotype; Humans; I | 2017 |
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2017 |
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Topics: Adolescent; Adult; Aggression; Apraxias; Brain; Child; Creatine; Epilepsy; Female; Gyrate Atrophy; H | 2009 |
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Carnitine; Child; Child, Preschool; Chromium; Cohor | 2010 |
Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms.
Topics: Adolescent; Aspartic Acid; Body Dysmorphic Disorders; Creatine; Epilepsy; Humans; Intellectual Disab | 2011 |
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Topics: Administration, Oral; Adolescent; Amino Acid Transport Disorders, Inborn; Arginine; Child; Child, Pr | 2012 |
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Topics: Adenosine Triphosphate; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine | 2013 |
AGAT knockout mice provide an opportunity to titrate tissue creatine content.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2013 |
[On the excretion of creatinine, creatine and total amino acids of mental defectives in comparison with normal children].
Topics: Amino Acids; Child; Creatine; Creatinine; Humans; Intellectual Disability | 1963 |
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatini | 1964 |
Pyridoxine-dependent seizures: magnetic resonance spectroscopy findings.
Topics: Aspartic Acid; Brain Damage, Chronic; Child; Choline; Consanguinity; Creatine; Diagnosis, Differenti | 2004 |
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Topics: Adolescent; Amidinotransferases; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; | 2006 |
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect | 2007 |
Neuroimaging findings in hyperargininemia.
Topics: Arginine; Aspartic Acid; Atrophy; Basal Ganglia Cerebrovascular Disease; Brain Diseases; Cerebellum; | 2008 |
Reduced N-acetylaspartate in the brain observed on in vivo proton magnetic resonance spectroscopy in patients with mental retardation.
Topics: Adolescent; Aspartic Acid; Brain; Brain Chemistry; Child; Child, Preschool; Choline; Creatine; Femal | 1995 |
Differences in brain metabolites between patients with autism and mental retardation as detected by in vivo localized proton magnetic resonance spectroscopy.
Topics: Aspartic Acid; Autistic Disorder; Brain; Child; Child, Preschool; Choline; Creatine; Female; Humans; | 1997 |
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 |
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Topics: Brain Chemistry; Brain Diseases, Metabolic; Child; Child, Preschool; Creatine; Family Health; Female | 2000 |
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.
Topics: Aspartic Acid; Body Fluids; Brain Diseases, Metabolic; Child, Preschool; Creatine; Diagnosis, Differ | 2000 |
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
Topics: Amino Acid Sequence; Base Sequence; Carrier Proteins; Child; Chromosome Mapping; Codon, Nonsense; Cr | 2001 |
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Brain | 2001 |
Aminoaciduria in xeroderma pigmentosum.
Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Amino Acid Metabolism, Inborn Errors; Autoanalysis; Biol | 1968 |
Effects of fresh plasma or whole blood transfusions on patients with various types of mucopolysaccharidosis.
Topics: Adolescent; Adrenal Cortex Hormones; Blood Transfusion; Carbohydrate Metabolism, Inborn Errors; Cety | 1972 |
Variations of urinary creatinine and its correlation to excretion of indole metabolites in mental patients.
Topics: Chemistry, Clinical; Circadian Rhythm; Creatine; Humans; Hydroxyindoleacetic Acid; In Vitro Techniqu | 1966 |