creatine has been researched along with Syndrome in 55 studies
Syndrome: A characteristic symptom complex.
Excerpt | Relevance | Reference |
---|---|---|
"Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS)." | 9.22 | Current and potential new treatment strategies for creatine deficiency syndromes. ( Braissant, O; Fernandes-Pires, G, 2022) |
"These preliminary data show that urea appears to be an effective therapeutic approach for the polydipsiahyponatremia syndrome." | 9.11 | Treatment of the polydipsia-hyponatremia syndrome with urea. ( Decaux, G; Musch, W; Verhoeven, A, 2005) |
"Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i." | 8.84 | Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007) |
"Since the first description of a creatine deficiency syndrome, the guanidinoacetate methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency syndromes--the creatine transporter (CrT1) defect and the arginine:glycine amidinotransferase (AGAT) deficiency were disclosed." | 8.82 | Creatine deficiency syndromes. ( Schulze, A, 2003) |
"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) |
"Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies." | 8.12 | Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine. ( Liu, N; Sun, Q, 2022) |
"Cerebral creatine deficiency syndromes (CCDS) are disorders affecting creatine synthesis or transport." | 8.12 | Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants. ( Abdou, DM; Elabd, NE; Griffin, JL; Mustafa, NM; Selim, LA, 2022) |
"To explore the clinical features and genetic basis for a patient diagnosed with creatine deficiency syndrome (CDS)." | 8.02 | [Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome]. ( Xu, Z; Zhang, L; Zhang, Y; Zhou, M, 2021) |
"This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations." | 7.96 | [Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families]. ( Dong, XR; Sun, WH; Wang, HJ; Wang, Y; Wu, BB; Wu, MY; Xiao, FF; Zhang, P; Zhou, WH; Zhuang, DY, 2020) |
"Cerebral creatine deficiency syndromes (CCDSs) are caused by loss-of-function mutations in creatine transporter (CRT, SLC6A8), which transports creatine at the blood-brain barrier and into neurons of the central nervous system (CNS)." | 7.85 | Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization. ( Ito, S; Ohta, Y; Ohtsuki, S; Tachikawa, M; Terasaki, T; Uemura, T; Wada, T, 2017) |
"Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism." | 7.83 | Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. ( Anagnostou, E; Bauman, M; Cameron, J; Chen, S; Kyriakopoulou, L; Loh, A; Nozzolillo, AA; Reynolds, A; Roberts, W; Scherer, SW; Schulze, A; Tsai, AC, 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) |
" Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD." | 7.76 | Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? ( Angley, MT; Gerber, JP; McKinnon, RA; Sorich, MJ; Wang, L; Young, RL, 2010) |
"To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories." | 7.76 | GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis. ( Briand, G; Feki, M; Kaabachi, N; Nasrallah, F, 2010) |
"Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently." | 7.71 | X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( Bizzi, A; Bugiani, M; Danesi, U; Estienne, M; Hunneman, DH; Jakobs, C; Moroni, I; Salomons, GS; Uziel, G, 2002) |
"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) |
"Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively." | 7.67 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987) |
"Fibromyalgia is an ill-defined condition that causes pain and disability but still lacks effective treatment." | 6.74 | An open-label study adding creatine monohydrate to ongoing medical regimens in patients with the fibromyalgia syndrome. ( Amital, D; Amital, H; Leader, A; Rubinow, A, 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." | 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) |
"Creatine deficiency syndromes (CDS) are inherited metabolic disorders caused by mutations in GATM, GAMT and SLC6A8 and mainly affect central nervous system (CNS)." | 5.22 | Current and potential new treatment strategies for creatine deficiency syndromes. ( Braissant, O; Fernandes-Pires, G, 2022) |
"These preliminary data show that urea appears to be an effective therapeutic approach for the polydipsiahyponatremia syndrome." | 5.11 | Treatment of the polydipsia-hyponatremia syndrome with urea. ( Decaux, G; Musch, W; Verhoeven, A, 2005) |
"Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i." | 4.84 | Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007) |
"Since the first description of a creatine deficiency syndrome, the guanidinoacetate methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency syndromes--the creatine transporter (CrT1) defect and the arginine:glycine amidinotransferase (AGAT) deficiency were disclosed." | 4.82 | Creatine deficiency syndromes. ( Schulze, A, 2003) |
"Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies." | 4.12 | Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine. ( Liu, N; Sun, Q, 2022) |
"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) |
"Cerebral creatine deficiency syndromes (CCDS) are disorders affecting creatine synthesis or transport." | 4.12 | Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants. ( Abdou, DM; Elabd, NE; Griffin, JL; Mustafa, NM; Selim, LA, 2022) |
"To explore the clinical features and genetic basis for a patient diagnosed with creatine deficiency syndrome (CDS)." | 4.02 | [Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome]. ( Xu, Z; Zhang, L; Zhang, Y; Zhou, M, 2021) |
"This article reports the clinical and genetic features of two cases of cerebral creatine deficiency syndrome I (CCDSI) caused by SLC6A8 gene mutations." | 3.96 | [Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families]. ( Dong, XR; Sun, WH; Wang, HJ; Wang, Y; Wu, BB; Wu, MY; Xiao, FF; Zhang, P; Zhou, WH; Zhuang, DY, 2020) |
"Cerebral creatine deficiency syndromes (CCDSs) are caused by loss-of-function mutations in creatine transporter (CRT, SLC6A8), which transports creatine at the blood-brain barrier and into neurons of the central nervous system (CNS)." | 3.85 | Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization. ( Ito, S; Ohta, Y; Ohtsuki, S; Tachikawa, M; Terasaki, T; Uemura, T; Wada, T, 2017) |
"Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism." | 3.83 | Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. ( Anagnostou, E; Bauman, M; Cameron, J; Chen, S; Kyriakopoulou, L; Loh, A; Nozzolillo, AA; Reynolds, A; Roberts, W; Scherer, SW; Schulze, A; Tsai, AC, 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." | 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) |
" Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD." | 3.76 | Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? ( Angley, MT; Gerber, JP; McKinnon, RA; Sorich, MJ; Wang, L; Young, RL, 2010) |
"To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories." | 3.76 | GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis. ( Briand, G; Feki, M; Kaabachi, N; Nasrallah, F, 2010) |
"Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently." | 3.71 | X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( Bizzi, A; Bugiani, M; Danesi, U; Estienne, M; Hunneman, DH; Jakobs, C; Moroni, I; Salomons, GS; Uziel, G, 2002) |
"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) |
"Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively." | 3.67 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement. ( Bachmann, C; Colombo, JP; Dionisi Vici, C; Gambarara, M; Sabetta, G, 1987) |
"Five patients with hepatorenal syndrome were treated with a LeVeen peritoneovenous shunt and furosemide." | 3.66 | Treatment of hepatorenal syndrome. ( Schwartz, ML; Vogel, SB, 1980) |
"Fibromyalgia is an ill-defined condition that causes pain and disability but still lacks effective treatment." | 2.74 | An open-label study adding creatine monohydrate to ongoing medical regimens in patients with the fibromyalgia syndrome. ( Amital, D; Amital, H; Leader, A; Rubinow, A, 2009) |
"Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, and as a compound with anabolic and ergogenic properties in muscle." | 1.72 | Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy. ( Binz, PA; Braissant, O; Cudalbu, C; De Bock, K; Duran-Trio, L; Fernandes-Pires, G; Grosse, J; Roux-Petronelli, C; Sandi, C; Soro-Arnaiz, I, 2022) |
"The patient had persistent joint pain and weakness after intravenous methylprednisolone administration and complained of an inability to walk with a positive test for Gower's sign one week after admission, accompanied by elevated alanine aminotransferase (ALT) and creatine-phospho-kinase (CPK) levels." | 1.72 | Overlap syndrome in a 12-year-old girl with systemic lupus erythematosus and anti-oj antibody-positive polymyositis: a case report. ( Kao, JK; Lin, KH, 2022) |
"Creatine plays an important role in the storage and transmission of phosphate-bound energy." | 1.35 | Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry. ( Calvin, J; Carling, RS; Hogg, SL; Wood, TC, 2008) |
"PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy." | 1.33 | Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. ( Boltshauser, E; Huisman, TA; Klein, A; Straube, T; Werner, B, 2006) |
"Two cases of reversible posterior leukoencephalopathy syndrome were examined with proton MR spectroscopic imaging." | 1.31 | Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. ( Barker, PB; Beauchamp, NJ; Eichler, FS; Wang, P; Wityk, RJ, 2002) |
"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) |
"The metabolic disturbances indicate disease progression but are less pronounced than in older patients with hemimegalencephaly." | 1.30 | Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome. ( Christen, HJ; Frahm, J; Hanefeld, FA; Kruse, B; Pouwels, PJ, 1998) |
"Hemolysis was mild and fully compensated." | 1.27 | Hereditary leaky red cell syndrome in a Swiss family. ( Bischof, M; Bucher, U; Fey, MF; Schatzmann, HJ; Zahler, P, 1986) |
"Besides myotonic dystrophy some generalized myotonias exist, until now mostly diagnosed as "Thomsen's disease." | 1.25 | Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. ( Becker, PE, 1971) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 8 (14.55) | 18.7374 |
1990's | 5 (9.09) | 18.2507 |
2000's | 20 (36.36) | 29.6817 |
2010's | 14 (25.45) | 24.3611 |
2020's | 8 (14.55) | 2.80 |
Authors | Studies |
---|---|
Duran-Trio, L | 1 |
Fernandes-Pires, G | 2 |
Grosse, J | 1 |
Soro-Arnaiz, I | 1 |
Roux-Petronelli, C | 1 |
Binz, PA | 1 |
De Bock, K | 1 |
Cudalbu, C | 1 |
Sandi, C | 1 |
Braissant, O | 3 |
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 |
Liu, N | 1 |
Sun, Q | 2 |
Mustafa, NM | 1 |
Elabd, NE | 1 |
Selim, LA | 1 |
Abdou, DM | 1 |
Griffin, JL | 1 |
Lin, KH | 1 |
Kao, JK | 1 |
Sun, WH | 2 |
Zhuang, DY | 1 |
Wang, Y | 2 |
Xiao, FF | 1 |
Wu, MY | 1 |
Dong, XR | 1 |
Zhang, P | 1 |
Wang, HJ | 1 |
Zhou, WH | 1 |
Wu, BB | 1 |
Zhang, Y | 1 |
Zhang, L | 1 |
Zhou, M | 1 |
Xu, Z | 1 |
Yang, L | 1 |
Fang, F | 1 |
Abudu, H | 1 |
Aximujiang, K | 1 |
Ahemaiti, A | 1 |
Wu, G | 1 |
Zhang, J | 2 |
Yunusi, K | 2 |
Stromillo, ML | 1 |
Giorgio, A | 1 |
Rossi, F | 1 |
Battaglini, M | 1 |
Hakiki, B | 1 |
Malentacchi, G | 1 |
Santangelo, M | 1 |
Gasperini, C | 1 |
Bartolozzi, ML | 1 |
Portaccio, E | 1 |
Amato, MP | 1 |
De Stefano, N | 1 |
Comeaux, MS | 1 |
Wang, J | 1 |
Wang, G | 1 |
Kleppe, S | 1 |
Zhang, VW | 1 |
Schmitt, ES | 1 |
Craigen, WJ | 1 |
Renaud, D | 1 |
Wong, LJ | 1 |
Hettinga, YM | 1 |
Scheerlinck, LM | 1 |
Lilien, MR | 1 |
Rothova, A | 1 |
de Boer, JH | 1 |
Mosha, G | 1 |
Nurmaimaiti, A | 1 |
Abudula, M | 1 |
Huang, J | 1 |
Schulze, A | 3 |
Bauman, M | 1 |
Tsai, AC | 1 |
Reynolds, A | 1 |
Roberts, W | 1 |
Anagnostou, E | 1 |
Cameron, J | 1 |
Nozzolillo, AA | 1 |
Chen, S | 1 |
Kyriakopoulou, L | 1 |
Scherer, SW | 1 |
Loh, A | 1 |
Uemura, T | 1 |
Ito, S | 1 |
Ohta, Y | 1 |
Tachikawa, M | 1 |
Wada, T | 1 |
Terasaki, T | 1 |
Ohtsuki, S | 1 |
Stockler, S | 1 |
Schutz, PW | 1 |
Salomons, GS | 6 |
Carling, RS | 1 |
Hogg, SL | 1 |
Wood, TC | 1 |
Calvin, J | 1 |
Abe, Y | 1 |
Yamamoto, T | 1 |
Soeda, T | 1 |
Kumagai, T | 1 |
Tanno, Y | 1 |
Kubo, J | 1 |
Ishihara, T | 1 |
Katayama, S | 1 |
Morini, C | 1 |
Capozzi, P | 1 |
Boenzi, S | 1 |
Rizzo, C | 1 |
Santorelli, FM | 1 |
Dionisi-Vici, C | 1 |
Leader, A | 1 |
Amital, D | 1 |
Rubinow, A | 1 |
Amital, H | 1 |
Béard, E | 1 |
Torrent, C | 1 |
Henry, H | 1 |
Wang, L | 1 |
Angley, MT | 1 |
Sorich, MJ | 1 |
Young, RL | 1 |
McKinnon, RA | 1 |
Gerber, JP | 1 |
Ardon, O | 1 |
Amat di San Filippo, C | 1 |
Longo, N | 1 |
Nasrallah, F | 1 |
Feki, M | 1 |
Briand, G | 1 |
Kaabachi, N | 1 |
Chen, YC | 1 |
Lin, YC | 1 |
Bizzi, A | 1 |
Bugiani, M | 1 |
Hunneman, DH | 1 |
Moroni, I | 1 |
Estienne, M | 1 |
Danesi, U | 1 |
Jakobs, C | 3 |
Uziel, G | 1 |
HOLLISTER, LE | 1 |
SJOBERG, BM | 1 |
ROGUSKI, J | 1 |
DURKALEC, J | 1 |
HASIK, J | 1 |
JAROSZEWSKI, F | 1 |
KRASNIK, W | 1 |
NOWACZYK, J | 1 |
RACHLEWICZ, J | 1 |
ROGUSKA, J | 1 |
RUSZKOWSKI, M | 1 |
Nagae-Poetscher, LM | 1 |
Bibat, G | 1 |
Philippart, M | 1 |
Rosemberg, S | 1 |
Fatemi, A | 1 |
Lacerda, MT | 1 |
Costa, MO | 1 |
Kok, F | 1 |
Costa Leite, C | 1 |
Horská, A | 1 |
Barker, PB | 2 |
Naidu, S | 1 |
Fernando, KT | 1 |
McLean, MA | 1 |
Chard, DT | 1 |
MacManus, DG | 1 |
Dalton, CM | 1 |
Miszkiel, KA | 1 |
Gordon, RM | 1 |
Plant, GT | 1 |
Thompson, AJ | 1 |
Miller, DH | 1 |
Almeida, LS | 1 |
Verhoeven, NM | 2 |
Roos, B | 1 |
Valongo, C | 1 |
Cardoso, ML | 1 |
Vilarinho, L | 1 |
Rosser, CJ | 1 |
Auringer, S | 1 |
Kroovand, RL | 1 |
Sijens, PE | 2 |
Verbruggen, KT | 2 |
Meiners, LC | 1 |
Soorani-Lunsing, RJ | 2 |
Rake, JP | 1 |
Oudkerk, M | 2 |
Kleefstra, T | 1 |
Rosenberg, EH | 1 |
Stroink, H | 1 |
van Bokhoven, H | 1 |
Hamel, BC | 1 |
de Vries, BB | 1 |
van Spronsen, FJ | 1 |
Verhoeven, A | 1 |
Musch, W | 1 |
Decaux, G | 1 |
Huisman, TA | 1 |
Klein, A | 1 |
Werner, B | 1 |
Straube, T | 1 |
Boltshauser, E | 1 |
Young, S | 1 |
Struys, E | 1 |
Wood, T | 1 |
Schwartz, ML | 1 |
Vogel, SB | 1 |
Il'ina, NA | 2 |
Antipova, RI | 1 |
Khokhlov, AP | 2 |
Cendes, F | 1 |
Andermann, F | 1 |
Silver, K | 1 |
Arnold, DL | 1 |
Stockhammer, G | 1 |
Felber, SR | 1 |
Zelger, B | 1 |
Sepp, N | 1 |
Birbamer, GG | 1 |
Fritsch, PO | 1 |
Aichner, FT | 1 |
Stöckler-Ipsiroglu, S | 1 |
Hess, T | 1 |
Wevers, R | 1 |
Mayatepek, E | 1 |
Bachert, P | 1 |
Marescau, B | 1 |
Knopp, MV | 1 |
De Deyn, PP | 1 |
Bremer, HJ | 1 |
Rating, D | 1 |
Kruse, B | 1 |
Pouwels, PJ | 1 |
Christen, HJ | 1 |
Frahm, J | 1 |
Hanefeld, FA | 1 |
Bingham, C | 1 |
Bulman, MP | 1 |
Ellard, S | 1 |
Allen, LI | 1 |
Lipkin, GW | 1 |
Hoff, WG | 1 |
Woolf, AS | 1 |
Rizzoni, G | 1 |
Novelli, G | 1 |
Nicholls, AJ | 1 |
Hattersley, AT | 1 |
van Dooren, SJ | 1 |
Cecil, KM | 1 |
Ball, WS | 1 |
Degrauw, TJ | 1 |
Eichler, FS | 1 |
Wang, P | 1 |
Wityk, RJ | 1 |
Beauchamp, NJ | 1 |
Poliakova, NF | 1 |
Fey, MF | 1 |
Bischof, M | 1 |
Zahler, P | 1 |
Schatzmann, HJ | 1 |
Bucher, U | 1 |
Dionisi Vici, C | 1 |
Bachmann, C | 1 |
Gambarara, M | 1 |
Colombo, JP | 1 |
Sabetta, G | 1 |
Becker, PE | 1 |
4 reviews available for creatine and Syndrome
Article | Year |
---|---|
Current and potential new treatment strategies for creatine deficiency syndromes.
Topics: Brain; Brain Diseases, Metabolic, Inborn; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Me | 2022 |
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Topics: Adult; Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Cerebellar Diseases; Child; | 2007 |
[Advances in studies on cerebral creatine deficiency syndrome].
Topics: Brain; Brain Chemistry; Creatine; Humans; Syndrome | 2010 |
Creatine deficiency syndromes.
Topics: Administration, Oral; Amidinotransferases; Brain; Child; Chromosomes, Human, X; Creatine; Family Hea | 2003 |
2 trials available for creatine and Syndrome
Article | Year |
---|---|
An open-label study adding creatine monohydrate to ongoing medical regimens in patients with the fibromyalgia syndrome.
Topics: Creatine; Drug Therapy, Combination; Female; Fibromyalgia; Humans; Pain Measurement; Patient Complia | 2009 |
Treatment of the polydipsia-hyponatremia syndrome with urea.
Topics: Administration, Oral; Adult; Aged; Body Weight; Circadian Rhythm; Comorbidity; Creatine; Drinking; D | 2005 |
49 other studies available for creatine and Syndrome
Article | Year |
---|---|
Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.
Topics: Animals; Cerebellar Diseases; Cerebellum; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Me | 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 |
Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine.
Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant, Newborn; Neonatal Screening | 2022 |
Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants.
Topics: Arginine; Chromatography, High Pressure Liquid; Creatine; Guanidinoacetate N-Methyltransferase; Huma | 2022 |
Overlap syndrome in a 12-year-old girl with systemic lupus erythematosus and anti-oj antibody-positive polymyositis: a case report.
Topics: Adult; Alanine Transaminase; Antibodies, Antinuclear; Arthralgia; Autoantibodies; Child; Creatine; C | 2022 |
[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Topics: Child; Child, Preschool; Creatine; Epilepsy; Genetic Testing; Humans; Male; Mutation; Nerve Tissue P | 2020 |
[Analysis of clinical features and genetic variants in a child with creatine deficiency syndrome].
Topics: Child; Creatine; Exome Sequencing; Exons; Humans; Mutation; Syndrome | 2021 |
[A case of creatine deficiency syndromes caused by GAMT gene mutation].
Topics: Creatine; Guanidinoacetate N-Methyltransferase; Humans; Mutation; Syndrome | 2017 |
[Metabonomic analysis of the urine from rat model with abnormal sapra syndrome].
Topics: Amino Acids; Animals; Citric Acid; Creatine; Disease Models, Animal; Energy Metabolism; Glutamine; G | 2017 |
Brain metabolic changes suggestive of axonal damage in radiologically isolated syndrome.
Topics: Adult; Aspartic Acid; Axons; Brain; Choline; Creatine; Disease Progression; Female; Humans; Magnetic | 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 |
The value of measuring urinary β2-microglobulin and serum creatinine for detecting tubulointerstitial nephritis and uveitis syndrome in young patients with uveitis.
Topics: Adolescent; beta 2-Microglobulin; Biomarkers; Biopsy; Child; Child, Preschool; Creatine; Diagnosis, | 2015 |
[Metabonomic analysis of the serum from rat model with abnormal balgam syndrome of Uyghur medicine].
Topics: Animals; Blood Glucose; Carboxylic Acids; Creatine; Disease Models, Animal; Lipoproteins, LDL; Male; | 2015 |
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.
Topics: Adolescent; Autistic Disorder; Child; Child, Preschool; Creatine; Deficiency Diseases; Female; Human | 2016 |
Abnormal N-Glycosylation of a Novel Missense Creatine Transporter Mutant, G561R, Associated with Cerebral Creatine Deficiency Syndromes Alters Transporter Activity and Localization.
Topics: Biological Transport; Brain; Cell Membrane; Creatine; Glycosylation; HEK293 Cells; Humans; Membrane | 2017 |
Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry.
Topics: Adult; Blood Chemical Analysis; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Chromato | 2008 |
Diabetic striatal disease: clinical presentation, neuroimaging, and pathology.
Topics: Adolescent; Aged; Aged, 80 and over; Aspartic Acid; Choline; Chorea; Corpus Striatum; Creatine; Diab | 2009 |
Retinal degeneration.
Topics: Adult; Amino Acid Transport Systems, Basic; Cataract; Citrulline; Consanguinity; Creatine; Diet, Pro | 2009 |
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
Topics: Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Brain Mapping; Cell Count; Cells, C | 2010 |
Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
Topics: Biomarkers; Brain Diseases, Metabolic, Inborn; Child; Child Development Disorders, Pervasive; Chroma | 2010 |
Creatine transporter deficiency in two half-brothers.
Topics: Brain; Cells, Cultured; Child; Creatine; Female; Fibroblasts; Humans; Infant; Magnetic Resonance Ima | 2010 |
GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis.
Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Calibration; Child; Child, Preschool; Chromato | 2010 |
Wunderlich syndrome.
Topics: Abdominal Pain; Aged; Angiomyolipoma; Asian People; Creatine; Fecal Impaction; Female; Hematocrit; H | 2013 |
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
Topics: Administration, Oral; Brain; Creatine; Genetic Linkage; Humans; Infant; Magnetic Resonance Spectrosc | 2002 |
CLINICAL SYNDROMES AND BIOCHEMICAL ALTERATIONS FOLLOWING MESCALINE, LYSERGIC ACID DIETHYLAMIDE, PSILOCYBIN AND A COMBINATION OF THE THREE PSYCHOTOMIMETIC DRUGS.
Topics: Biomedical Research; Blood; Blood Glucose; Calcium; Chlorides; Creatine; Creatinine; Emotions; Fatty | 1964 |
INCIDENCE OF CLINICAL CRITERIA OF ATHEROSCLEROSIS IN HYPO- AND HYPERTHYROIDISM, POLYCYTHAEMIA VERA AND CHRONIC COR PULMONALE (PARA- AND ANTIATHEROSCLEROTIC SYNDROMES).
Topics: Arteriosclerosis; Atherosclerosis; Ballistocardiography; Creatine; Creatinine; Electrocardiography; | 1964 |
Leukoencephalopathy, cerebral calcifications, and cysts: new observations.
Topics: Adolescent; Aspartic Acid; Brain; Brain Diseases; Calcinosis; Central Nervous System Cysts; Child; C | 2004 |
Elevated white matter myo-inositol in clinically isolated syndromes suggestive of multiple sclerosis.
Topics: Adolescent; Adult; Aspartic Acid; Biomarkers; Brain; Creatine; Female; Humans; Inositol; Magnetic Re | 2004 |
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
Topics: Adolescent; Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; | 2004 |
VURD syndrome managed by pyelostomy.
Topics: Adult; Creatine; Female; Humans; Hydronephrosis; Infant, Newborn; Kidney; Kidney Pelvis; Oligohydram | 2004 |
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.
Topics: Aspartic Acid; Brain Chemistry; Child, Preschool; Choline; Creatine; Glutamic Acid; Glycine; Guanidi | 2005 |
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Topics: Aged; Amino Acid Transport Disorders, Inborn; Brain; Creatine; Depression; Disease Progression; Fema | 2005 |
1H MR spectroscopy of the brain in Cr transporter defect.
Topics: Brain; Creatine; Glycine; Humans; Magnetic Resonance Spectroscopy; Male; Membrane Transport Proteins | 2005 |
Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
Topics: Aspartic Acid; Atrophy; Brain Diseases; Brain Edema; Cerebellum; Child; Choline; Creatine; Diffusion | 2006 |
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human | 2007 |
Treatment of hepatorenal syndrome.
Topics: Adult; Ascites; Ascitic Fluid; Creatine; Furosemide; Humans; Infusions, Parenteral; Kidney Diseases; | 1980 |
[Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy].
Topics: Adolescent; Adult; Carbonates; Child; Creatine; Creatinine; Female; Humans; Lithium; Male; Motor Neu | 1980 |
Imaging of axonal damage in vivo in Rasmussen's syndrome.
Topics: Adolescent; Aspartic Acid; Brain Chemistry; Child; Chronic Disease; Creatine; Disease Progression; E | 1995 |
Sneddon's syndrome: diagnosis by skin biopsy and MRI in 17 patients.
Topics: Adolescent; Adult; Angiography; Arteries; Biopsy; Cerebral Infarction; Cerebrovascular Disorders; Cr | 1993 |
Creatine deficiency syndromes: a new perspective on metabolic disorders and a diagnostic challenge.
Topics: Arginine; Brain; Creatine; Humans; Liver; Magnetic Resonance Spectroscopy; Metabolic Diseases; Muscl | 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 magnetic resonance spectroscopy of linear nevus sebaceus syndrome.
Topics: Aspartic Acid; Brain Chemistry; Cerebral Cortex; Child, Preschool; Choline; Creatine; Disease Progre | 1998 |
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.
Topics: Adolescent; Adult; Age of Onset; Blood Pressure; Child; Codon, Nonsense; Creatine; Diabetes Complica | 2001 |
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 |
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.
Topics: Adult; Aspartic Acid; Brain Diseases; Choline; Confusion; Creatine; Female; Headache; Humans; Magnet | 2002 |
[Pathogenesis of creatinuria and aminoaciduria in neuromuscular diseases].
Topics: Adolescent; Adult; Amino Acids; Amyotrophic Lateral Sclerosis; Caffeine; Child; Child, Preschool; Cr | 1977 |
Hereditary leaky red cell syndrome in a Swiss family.
Topics: Adult; Aged; Anemia, Hemolytic, Congenital; Biological Transport; Calcium; Creatine; Erythrocyte Mem | 1986 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Child, Preschool; Citrulline; Creatine; Fem | 1987 |
Genetic approaches to the nosology of muscular disease: myotonias and similar diseases.
Topics: Adult; Cold Temperature; Creatine; Diagnosis, Differential; Facial Muscles; Female; Genes, Dominant; | 1971 |