creatine and Syndrome studies

creatine and Syndrome

creatine has been researched along with Syndrome in 55 studies

Syndrome: A characteristic symptom complex.

Research Excerpts

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)

Research

Studies (55)

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

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

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

Studies

Duran-Trio, L

Fernandes-Pires, G

Grosse, J

Soro-Arnaiz, I

Roux-Petronelli, C

Binz, PA

De Bock, K

Cudalbu, C

Sandi, C

Braissant, O

Shen, M

Yang, G

Chen, Z

Yang, K

Dong, H

Yin, C

Cheng, Y

Zhang, C

Gu, F

Yang, Y

Tian, Y

Liu, N

Sun, Q

Mustafa, NM

Elabd, NE

Selim, LA

Abdou, DM

Griffin, JL

Lin, KH

Kao, JK

Sun, WH

Zhuang, DY

Wang, Y

Xiao, FF

Wu, MY

Dong, XR

Zhang, P

Wang, HJ

Zhou, WH

Wu, BB

Zhang, Y

Zhang, L

Zhou, M

Xu, Z

Yang, L

Fang, F

Abudu, H

Aximujiang, K

Ahemaiti, A

Wu, G

Zhang, J

Yunusi, K

Stromillo, ML

Giorgio, A

Rossi, F

Battaglini, M

Hakiki, B

Malentacchi, G

Santangelo, M

Gasperini, C

Bartolozzi, ML

Portaccio, E

Amato, MP

De Stefano, N

Comeaux, MS

Wang, J

Wang, G

Kleppe, S

Zhang, VW

Schmitt, ES

Craigen, WJ

Renaud, D

Wong, LJ

Hettinga, YM

Scheerlinck, LM

Lilien, MR

Rothova, A

de Boer, JH

Mosha, G

Nurmaimaiti, A

Abudula, M

Huang, J

Schulze, A

Bauman, M

Tsai, AC

Reynolds, A

Roberts, W

Anagnostou, E

Cameron, J

Nozzolillo, AA

Chen, S

Kyriakopoulou, L

Scherer, SW

Loh, A

Uemura, T

Ito, S

Ohta, Y

Tachikawa, M

Wada, T

Terasaki, T

Ohtsuki, S

Stockler, S

Schutz, PW

Salomons, GS

Carling, RS

Hogg, SL

Wood, TC

Calvin, J

Abe, Y

Yamamoto, T

Soeda, T

Kumagai, T

Tanno, Y

Kubo, J

Ishihara, T

Katayama, S

Morini, C

Capozzi, P

Boenzi, S

Rizzo, C

Santorelli, FM

Dionisi-Vici, C

Leader, A

Amital, D

Rubinow, A

Amital, H

Béard, E

Torrent, C

Henry, H

Wang, L

Angley, MT

Sorich, MJ

Young, RL

McKinnon, RA

Gerber, JP

Ardon, O

Amat di San Filippo, C

Longo, N

Nasrallah, F

Feki, M

Briand, G

Kaabachi, N

Chen, YC

Lin, YC

Bizzi, A

Bugiani, M

Hunneman, DH

Moroni, I

Estienne, M

Danesi, U

Jakobs, C

Uziel, G

HOLLISTER, LE

SJOBERG, BM

ROGUSKI, J

DURKALEC, J

HASIK, J

JAROSZEWSKI, F

KRASNIK, W

NOWACZYK, J

RACHLEWICZ, J

ROGUSKA, J

RUSZKOWSKI, M

Nagae-Poetscher, LM

Bibat, G

Philippart, M

Rosemberg, S

Fatemi, A

Lacerda, MT

Costa, MO

Kok, F

Costa Leite, C

Horská, A

Barker, PB

Naidu, S

Fernando, KT

McLean, MA

Chard, DT

MacManus, DG

Dalton, CM

Miszkiel, KA

Gordon, RM

Plant, GT

Thompson, AJ

Miller, DH

Almeida, LS

Verhoeven, NM

Roos, B

Valongo, C

Cardoso, ML

Vilarinho, L

Rosser, CJ

Auringer, S

Kroovand, RL

Sijens, PE

Verbruggen, KT

Meiners, LC

Soorani-Lunsing, RJ

Rake, JP

Oudkerk, M

Kleefstra, T

Rosenberg, EH

Stroink, H

van Bokhoven, H

Hamel, BC

de Vries, BB

van Spronsen, FJ

Verhoeven, A

Musch, W

Decaux, G

Huisman, TA

Klein, A

Werner, B

Straube, T

Boltshauser, E

Young, S

Struys, E

Wood, T

Schwartz, ML

Vogel, SB

Il'ina, NA

Antipova, RI

Khokhlov, AP

Cendes, F

Andermann, F

Silver, K

Arnold, DL

Stockhammer, G

Felber, SR

Zelger, B

Sepp, N

Birbamer, GG

Fritsch, PO

Aichner, FT

Stöckler-Ipsiroglu, S

Hess, T

Wevers, R

Mayatepek, E

Bachert, P

Marescau, B

Knopp, MV

De Deyn, PP

Bremer, HJ

Rating, D

Kruse, B

Pouwels, PJ

Christen, HJ

Frahm, J

Hanefeld, FA

Bingham, C

Bulman, MP

Ellard, S

Allen, LI

Lipkin, GW

Hoff, WG

Woolf, AS

Rizzoni, G

Novelli, G

Nicholls, AJ

Hattersley, AT

van Dooren, SJ

Cecil, KM

Ball, WS

Degrauw, TJ

Eichler, FS

Wang, P

Wityk, RJ

Beauchamp, NJ

Poliakova, NF

Fey, MF

Bischof, M

Zahler, P

Schatzmann, HJ

Bucher, U

Dionisi Vici, C

Bachmann, C

Gambarara, M

Colombo, JP

Sabetta, G

Becker, PE

Reviews

4 reviews available for creatine and Syndrome

Article	Year
Current and potential new treatment strategies for creatine deficiency syndromes. Molecular genetics and metabolism, 2022, Volume: 135, Issue:1 Topics: Brain; Brain Diseases, Metabolic, Inborn; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Me	2022
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Sub-cellular biochemistry, 2007, Volume: 46 Topics: Adult; Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Cerebellar Diseases; Child;	2007
[Advances in studies on cerebral creatine deficiency syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010, Volume: 48, Issue:6 Topics: Brain; Brain Chemistry; Creatine; Humans; Syndrome	2010
Creatine deficiency syndromes. Molecular and cellular biochemistry, 2003, Volume: 244, Issue:1-2 Topics: Administration, Oral; Amidinotransferases; Brain; Child; Chromosomes, Human, X; Creatine; Family Hea	2003

Article

Year

Current and potential new treatment strategies for creatine deficiency syndromes.

Molecular genetics and metabolism, 2022, Volume: 135, Issue:1

Topics: Brain; Brain Diseases, Metabolic, Inborn; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Me

2022

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Sub-cellular biochemistry, 2007, Volume: 46

Topics: Adult; Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Cerebellar Diseases; Child;

2007

[Advances in studies on cerebral creatine deficiency syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2010, Volume: 48, Issue:6

Topics: Brain; Brain Chemistry; Creatine; Humans; Syndrome

2010

Creatine deficiency syndromes.

Molecular and cellular biochemistry, 2003, Volume: 244, Issue:1-2

Topics: Administration, Oral; Amidinotransferases; Brain; Child; Chromosomes, Human, X; Creatine; Family Hea

2003

Trials

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. Annals of the New York Academy of Sciences, 2009, Volume: 1173 Topics: Creatine; Drug Therapy, Combination; Female; Fibromyalgia; Humans; Pain Measurement; Patient Complia	2009
Treatment of the polydipsia-hyponatremia syndrome with urea. The Journal of clinical psychiatry, 2005, Volume: 66, Issue:11 Topics: Administration, Oral; Adult; Aged; Body Weight; Circadian Rhythm; Comorbidity; Creatine; Drinking; D	2005

Article

Year

An open-label study adding creatine monohydrate to ongoing medical regimens in patients with the fibromyalgia syndrome.

Annals of the New York Academy of Sciences, 2009, Volume: 1173

Topics: Creatine; Drug Therapy, Combination; Female; Fibromyalgia; Humans; Pain Measurement; Patient Complia

2009

Treatment of the polydipsia-hyponatremia syndrome with urea.

The Journal of clinical psychiatry, 2005, Volume: 66, Issue:11

Topics: Administration, Oral; Adult; Aged; Body Weight; Circadian Rhythm; Comorbidity; Creatine; Drinking; D

2005

Other Studies

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. Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2 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. Clinica chimica acta; international journal of clinical chemistry, 2022, Jul-01, Volume: 532 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. Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546 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. Clinica chimica acta; international journal of clinical chemistry, 2022, Nov-01, Volume: 536 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. Pediatric rheumatology online journal, 2022, Oct-21, Volume: 20, Issue:1 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]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2020, Volume: 22, Issue:5 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]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021, Jul-10, Volume: 38, Issue:7 Topics: Child; Creatine; Exome Sequencing; Exons; Humans; Mutation; Syndrome	2021
[A case of creatine deficiency syndromes caused by GAMT gene mutation]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2017, Apr-02, Volume: 55, Issue:4 Topics: Creatine; Guanidinoacetate N-Methyltransferase; Humans; Mutation; Syndrome	2017
[Metabonomic analysis of the urine from rat model with abnormal sapra syndrome]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2017, Oct-28, Volume: 42, Issue:10 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. Neurology, 2013, Jun-04, Volume: 80, Issue:23 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. Molecular genetics and metabolism, 2013, Volume: 109, Issue:3 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. JAMA ophthalmology, 2015, Volume: 133, Issue:2 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]. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2015, Volume: 40, Issue:1 Topics: Animals; Blood Glucose; Carboxylic Acids; Creatine; Disease Models, Animal; Lipoproteins, LDL; Male;	2015
Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism. Pediatrics, 2016, Volume: 137, Issue:1 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. Biological & pharmaceutical bulletin, 2017, Volume: 40, Issue:1 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. Annals of clinical biochemistry, 2008, Volume: 45, Issue:Pt 6 Topics: Adult; Blood Chemical Analysis; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Chromato	2008
Diabetic striatal disease: clinical presentation, neuroimaging, and pathology. Internal medicine (Tokyo, Japan), 2009, Volume: 48, Issue:13 Topics: Adolescent; Aged; Aged, 80 and over; Aspartic Acid; Choline; Chorea; Corpus Striatum; Creatine; Diab	2009
Retinal degeneration. Ophthalmology, 2009, Volume: 116, Issue:8 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. Neurobiology of disease, 2010, Volume: 37, Issue:2 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? Autism research : official journal of the International Society for Autism Research, 2010, Volume: 3, Issue:5 Topics: Biomarkers; Brain Diseases, Metabolic, Inborn; Child; Child Development Disorders, Pervasive; Chroma	2010
Creatine transporter deficiency in two half-brothers. American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:8 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. Clinical biochemistry, 2010, Volume: 43, Issue:16-17 Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Calibration; Child; Child, Preschool; Chromato	2010
Wunderlich syndrome. QJM : monthly journal of the Association of Physicians, 2013, Volume: 106, Issue:2 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. Annals of neurology, 2002, Volume: 52, Issue:2 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. Comprehensive psychiatry, 1964, Volume: 5 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). Cor et vasa, 1964, Volume: 6 Topics: Arteriosclerosis; Atherosclerosis; Ballistocardiography; Creatine; Creatinine; Electrocardiography;	1964
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology, 2004, Apr-13, Volume: 62, Issue:7 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. Brain : a journal of neurology, 2004, Volume: 127, Issue:Pt 6 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. Molecular genetics and metabolism, 2004, Volume: 82, Issue:3 Topics: Adolescent; Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool;	2004
VURD syndrome managed by pyelostomy. TheScientificWorldJournal, 2004, Jun-28, Volume: 4 Suppl 1 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. European radiology, 2005, Volume: 15, Issue:9 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. Clinical genetics, 2005, Volume: 68, Issue:4 Topics: Aged; Amino Acid Transport Disorders, Inborn; Brain; Creatine; Depression; Disease Progression; Fema	2005
1H MR spectroscopy of the brain in Cr transporter defect. Molecular genetics and metabolism, 2005, Volume: 86, Issue:3 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. AJNR. American journal of neuroradiology, 2006, Volume: 27, Issue:7 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. Current protocols in human genetics, 2007, Volume: Chapter 17 Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human	2007
Treatment of hepatorenal syndrome. American journal of surgery, 1980, Volume: 139, Issue:3 Topics: Adult; Ascites; Ascitic Fluid; Creatine; Furosemide; Humans; Infusions, Parenteral; Kidney Diseases;	1980
[Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1980, Volume: 80, Issue:11 Topics: Adolescent; Adult; Carbonates; Child; Creatine; Creatinine; Female; Humans; Lithium; Male; Motor Neu	1980
Imaging of axonal damage in vivo in Rasmussen's syndrome. Brain : a journal of neurology, 1995, Volume: 118 ( Pt 3) 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. Stroke, 1993, Volume: 24, Issue:5 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. The Journal of pediatrics, 1997, Volume: 131, Issue:4 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. The Journal of pediatrics, 1997, Volume: 131, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cells, Cultured; Child, Preschool; Creatine; Creatinine	1997
Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome. Pediatric neurology, 1998, Volume: 18, Issue:2 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. American journal of human genetics, 2001, Volume: 68, Issue:1 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. American journal of human genetics, 2001, Volume: 68, Issue:6 Topics: Amino Acid Sequence; Base Sequence; Carrier Proteins; Child; Chromosome Mapping; Codon, Nonsense; Cr	2001
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR. American journal of neuroradiology, 2002, Volume: 23, Issue:5 Topics: Adult; Aspartic Acid; Brain Diseases; Choline; Confusion; Creatine; Female; Headache; Humans; Magnet	2002
[Pathogenesis of creatinuria and aminoaciduria in neuromuscular diseases]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1977, Volume: 77, Issue:7 Topics: Adolescent; Adult; Amino Acids; Amyotrophic Lateral Sclerosis; Caffeine; Child; Child, Preschool; Cr	1977
Hereditary leaky red cell syndrome in a Swiss family. Acta haematologica, 1986, Volume: 75, Issue:2 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. Pediatric research, 1987, Volume: 22, Issue:3 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. Birth defects original article series, 1971, Volume: 7, Issue:2 Topics: Adult; Cold Temperature; Creatine; Diagnosis, Differential; Facial Muscles; Female; Genes, Dominant;	1971

Article

Year

Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy.

Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2

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.

Clinica chimica acta; international journal of clinical chemistry, 2022, Jul-01, Volume: 532

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.

Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546

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.

Clinica chimica acta; international journal of clinical chemistry, 2022, Nov-01, Volume: 536

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.

Pediatric rheumatology online journal, 2022, Oct-21, Volume: 20, Issue:1

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].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2020, Volume: 22, Issue:5

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].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021, Jul-10, Volume: 38, Issue:7

Topics: Child; Creatine; Exome Sequencing; Exons; Humans; Mutation; Syndrome

2021

[A case of creatine deficiency syndromes caused by GAMT gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2017, Apr-02, Volume: 55, Issue:4

Topics: Creatine; Guanidinoacetate N-Methyltransferase; Humans; Mutation; Syndrome

2017

[Metabonomic analysis of the urine from rat model with abnormal sapra syndrome].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2017, Oct-28, Volume: 42, Issue:10

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.

Neurology, 2013, Jun-04, Volume: 80, Issue:23

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.

Molecular genetics and metabolism, 2013, Volume: 109, Issue:3

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.

JAMA ophthalmology, 2015, Volume: 133, Issue:2

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].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2015, Volume: 40, Issue:1

Topics: Animals; Blood Glucose; Carboxylic Acids; Creatine; Disease Models, Animal; Lipoproteins, LDL; Male;

2015

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

Pediatrics, 2016, Volume: 137, Issue:1

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.

Biological & pharmaceutical bulletin, 2017, Volume: 40, Issue:1

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.

Annals of clinical biochemistry, 2008, Volume: 45, Issue:Pt 6

Topics: Adult; Blood Chemical Analysis; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Chromato

2008

Diabetic striatal disease: clinical presentation, neuroimaging, and pathology.

Internal medicine (Tokyo, Japan), 2009, Volume: 48, Issue:13

Topics: Adolescent; Aged; Aged, 80 and over; Aspartic Acid; Choline; Chorea; Corpus Striatum; Creatine; Diab

2009

Retinal degeneration.

Ophthalmology, 2009, Volume: 116, Issue:8

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.

Neurobiology of disease, 2010, Volume: 37, Issue:2

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?

Autism research : official journal of the International Society for Autism Research, 2010, Volume: 3, Issue:5

Topics: Biomarkers; Brain Diseases, Metabolic, Inborn; Child; Child Development Disorders, Pervasive; Chroma

2010

Creatine transporter deficiency in two half-brothers.

American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:8

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.

Clinical biochemistry, 2010, Volume: 43, Issue:16-17

Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Calibration; Child; Child, Preschool; Chromato

2010

Wunderlich syndrome.

QJM : monthly journal of the Association of Physicians, 2013, Volume: 106, Issue:2

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.

Annals of neurology, 2002, Volume: 52, Issue:2

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.

Comprehensive psychiatry, 1964, Volume: 5

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).

Cor et vasa, 1964, Volume: 6

Topics: Arteriosclerosis; Atherosclerosis; Ballistocardiography; Creatine; Creatinine; Electrocardiography;

1964

Leukoencephalopathy, cerebral calcifications, and cysts: new observations.

Neurology, 2004, Apr-13, Volume: 62, Issue:7

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.

Brain : a journal of neurology, 2004, Volume: 127, Issue:Pt 6

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.

Molecular genetics and metabolism, 2004, Volume: 82, Issue:3

Topics: Adolescent; Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool;

2004

VURD syndrome managed by pyelostomy.

TheScientificWorldJournal, 2004, Jun-28, Volume: 4 Suppl 1

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.

European radiology, 2005, Volume: 15, Issue:9

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.

Clinical genetics, 2005, Volume: 68, Issue:4

Topics: Aged; Amino Acid Transport Disorders, Inborn; Brain; Creatine; Depression; Disease Progression; Fema

2005

1H MR spectroscopy of the brain in Cr transporter defect.

Molecular genetics and metabolism, 2005, Volume: 86, Issue:3

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.

AJNR. American journal of neuroradiology, 2006, Volume: 27, Issue:7

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.

Current protocols in human genetics, 2007, Volume: Chapter 17

Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human

2007

Treatment of hepatorenal syndrome.

American journal of surgery, 1980, Volume: 139, Issue:3

Topics: Adult; Ascites; Ascitic Fluid; Creatine; Furosemide; Humans; Infusions, Parenteral; Kidney Diseases;

1980

[Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy].

Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1980, Volume: 80, Issue:11

Topics: Adolescent; Adult; Carbonates; Child; Creatine; Creatinine; Female; Humans; Lithium; Male; Motor Neu

1980

Imaging of axonal damage in vivo in Rasmussen's syndrome.

Brain : a journal of neurology, 1995, Volume: 118 ( Pt 3)

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.

Stroke, 1993, Volume: 24, Issue:5

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.

The Journal of pediatrics, 1997, Volume: 131, Issue:4

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.

The Journal of pediatrics, 1997, Volume: 131, Issue:4

Topics: Amino Acid Metabolism, Inborn Errors; Brain; Cells, Cultured; Child, Preschool; Creatine; Creatinine

1997

Proton magnetic resonance spectroscopy of linear nevus sebaceus syndrome.

Pediatric neurology, 1998, Volume: 18, Issue:2

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.

American journal of human genetics, 2001, Volume: 68, Issue:1

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.

American journal of human genetics, 2001, Volume: 68, Issue:6

Topics: Amino Acid Sequence; Base Sequence; Carrier Proteins; Child; Chromosome Mapping; Codon, Nonsense; Cr

2001

Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.

AJNR. American journal of neuroradiology, 2002, Volume: 23, Issue:5

Topics: Adult; Aspartic Acid; Brain Diseases; Choline; Confusion; Creatine; Female; Headache; Humans; Magnet

2002

[Pathogenesis of creatinuria and aminoaciduria in neuromuscular diseases].

Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1977, Volume: 77, Issue:7

Topics: Adolescent; Adult; Amino Acids; Amyotrophic Lateral Sclerosis; Caffeine; Child; Child, Preschool; Cr

1977

Hereditary leaky red cell syndrome in a Swiss family.

Acta haematologica, 1986, Volume: 75, Issue:2

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.

Pediatric research, 1987, Volume: 22, Issue:3

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.

Birth defects original article series, 1971, Volume: 7, Issue:2

Topics: Adult; Cold Temperature; Creatine; Diagnosis, Differential; Facial Muscles; Female; Genes, Dominant;

1971