Published in J Inherit Metab Dis on April 04, 2008
Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency. PLoS One (2011) 1.06
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers. J Inherit Metab Dis (2012) 0.94
Creatine synthesis: hepatic metabolism of guanidinoacetate and creatine in the rat in vitro and in vivo. Am J Physiol Endocrinol Metab (2008) 0.93
Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis (2008) 0.92
X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis (2014) 0.86
Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. J Inherit Metab Dis (2011) 0.85
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms. Orphanet J Rare Dis (2012) 0.82
1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency. MAGMA (2008) 0.82
Patterns of brain injury in inborn errors of metabolism. Semin Pediatr Neurol (2012) 0.82
Creatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value? Neurosci Biobehav Rev (2012) 0.81
Creatine metabolism differs between mammals and rainbow trout (Oncorhynchus mykiss). Springerplus (2014) 0.79
Effects of creatine and β-guanidinopropionic acid and alterations in creatine transporter and creatine kinases expression in acute seizure and chronic epilepsy models. BMC Neurosci (2010) 0.79
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism. BMC Neurosci (2012) 0.78
Genetic diversity and natural selection footprints of the glycine amidinotransferase gene in various human populations. Sci Rep (2016) 0.75
Chronic high-dose creatine has opposing effects on depression-related gene expression and behavior in intact and sex hormone-treated gonadectomized male and female rats. Pharmacol Biochem Behav (2015) 0.75
Creatine Revealed Anticonvulsant Properties on Chemically and Electrically Induced Seizures in Mice. Iran J Pharm Res (2016) 0.75
Creatine and creatinine metabolism. Physiol Rev (2000) 5.76
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet (2001) 1.95
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr (1997) 1.76
Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res (1994) 1.47
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet (2004) 1.37
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet (1996) 1.34
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet (1996) 1.31
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet (2002) 1.27
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab (2004) 1.26
Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol (2004) 1.25
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet (2001) 1.23
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol (2001) 1.22
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A (2005) 1.21
A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression. J Biol Chem (1993) 1.17
Hyperammonemia-induced toxicity for the developing central nervous system. Brain Res Rev (2007) 1.14
Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev Biol (2005) 1.13
Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis. Eur J Neurosci (2004) 1.12
X-linked creatine transporter defect: an overview. J Inherit Metab Dis (2003) 1.12
Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res (2001) 1.07
Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency. Eur J Neurosci (2008) 1.05
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab (2001) 1.05
Creatine deficiency syndromes. Mol Cell Biochem (2003) 1.02
Congenital creatine transporter deficiency. Neuropediatrics (2002) 1.02
Increase of total creatine in human brain after oral supplementation of creatine-monohydrate. Am J Physiol (1999) 1.01
The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab (2002) 1.00
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem (2007) 1.00
Distribution of creatine, guanidinoacetate and the enzymes for their biosynthesis in the animal kingdom. Implications for phylogeny. Biochem J (1972) 1.00
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol (2002) 0.99
Ammonium-induced impairment of axonal growth is prevented through glial creatine. J Neurosci (2002) 0.96
Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione. J Neurochem (1998) 0.95
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis (2003) 0.95
L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res (1999) 0.94
Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol (2003) 0.92
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal (1998) 0.92
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology (2000) 0.92
New aspects of the blood-brain barrier transporters; its physiological roles in the central nervous system. Biol Pharm Bull (2004) 0.91
An immunohistochemical and morphometric study on astrocytes and microvasculature in the human cerebral cortex. Histochem J (1997) 0.90
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology (2006) 0.90
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A (2005) 0.89
Creatine transport in cultured cells of rat and mouse brain. J Neurochem (1989) 0.89
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab (2002) 0.88
Kinetics of creatine in blood and brain after intraperitoneal injection in the rat. Brain Res (2003) 0.88
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology (2006) 0.87
Creatine transporter localization in developing and adult retina: importance of creatine to retinal function. Am J Physiol Cell Physiol (2005) 0.87
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis (2006) 0.87
Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency. J Neurol Sci (2005) 0.85
Creatine synthesis and transport systems in the male rat reproductive tract. Biol Reprod (1998) 0.85
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis (2006) 0.85
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr (2006) 0.85
Exocytotic release of creatine in rat brain. Synapse (2006) 0.84
Guanidinoacetate methyltransferase activity in tissues and cultured cells. Arch Biochem Biophys (1985) 0.84
Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism. Neurobiol Dis (2002) 0.83
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency. Magn Reson Med (2003) 0.83
The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues. Biochem Biophys Res Commun (1994) 0.83
Expression and function of AGAT, GAMT and CT1 in the mammalian brain. Subcell Biochem (2007) 0.83
A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis. Subcell Biochem (2007) 0.83
1H MR spectroscopy of the brain in Cr transporter defect. Mol Genet Metab (2005) 0.82
Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol (1997) 0.82
Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia (2007) 0.82
Expression of the rat brain creatine transporter in situ and in transfected HeLa cells. Dev Neurosci (1996) 0.82
Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur J Pediatr (1998) 0.81
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab (2004) 0.81
Neuron-specific expression of cationic amino acid transporter 3 in the adult rat brain. Brain Res (1999) 0.81
Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr (2003) 0.81
Evidence for creatine biosynthesis in Müller glia. Glia (2005) 0.80
Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier. J Neurochem (2004) 0.79
Pre-symptomatic treatment of creatine biosynthesis defects. Subcell Biochem (2007) 0.79
Measurement of nitric oxide-related enzymes in the brain by in situ hybridization. Methods Mol Biol (2004) 0.78
Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain. Brain Res Mol Brain Res (2001) 0.77
In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system. J Comp Neurol (1995) 0.77
Possible role of creatine concentrations in the brain in regulating appetite and weight. Brain Res (2006) 0.77
Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy. J Appl Physiol (1985) (2007) 0.76
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum. Metab Brain Dis (2006) 0.75
Chemistry of tissues: 2. Polysaccharides showing blood group A-specificity and the nature of the constituent units of the stable carbohydrate residue of the A substance from pepsin. Biochem J (1946) 3.56
Population pharmacokinetics of imatinib and the role of alpha-acid glycoprotein. Br J Clin Pharmacol (2006) 1.46
Influences of eating patterns on change to a low-fat diet. J Am Diet Assoc (1993) 1.39
"TRAUMATIC GASTRIC ULCERS.". Br Med J (1916) 1.38
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. J Biol Chem (2000) 1.34
1,25-Dihydroxycholecalciferol--a hormonally active form of vitamin D. Recent Prog Horm Res (1974) 1.26
Inhibition of parathyroid hormone secretion by 25-hydroxycholecalciferol and 24,25-dihydroxycholecalciferol in the dog. J Clin Invest (1978) 1.14
Effects and interactions of 24R,25(OH)2D3 and 1,25(OH)2D3 on bone. Am J Physiol (1980) 1.10
Cloning and characterization of Helicobacter pylori succinyl CoA:acetoacetate CoA-transferase, a novel prokaryotic member of the CoA-transferase family. J Biol Chem (1997) 1.08
Chemistry of tissues: 3. Blood group substances from human gastric contents. Biochem J (1946) 1.08
Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res (2001) 1.07
The effects of familial relationships, age, body weight, and diet on blood pressure and the 24 hour urinary excretion of sodium, potassium, and creatinine in men, women, and children of randomly selected families. Circulation (1984) 1.01
Detection of oligoclonal free kappa chains in the absence of oligoclonal IgG in the CSF of patients with suspected multiple sclerosis. J Neurol Neurosurg Psychiatry (2004) 0.92
Measurement characteristics of 2 different self-monitoring tools used in a dietary intervention study. J Am Diet Assoc (2001) 0.88
The role of the kidney and vitamin D metabolism in health and disease. Clin Orthop Relat Res (1974) 0.84
Glyoxysomal malate dehydrogenase and malate synthase from soybean cotyledons (Glycine max L.): enzyme association, antibody production and cDNA cloning. Planta (1995) 0.83
Evaluation of an intrathecal immune response in amyotrophic lateral sclerosis patients implanted with encapsulated genetically engineered xenogeneic cells. Cell Transplant (2001) 0.82
Presence of renal 25-hydroxyvitamin-D-1-hydroxylase in species of all vertebrate classes. Comp Biochem Physiol B (1975) 0.81
Ovine microsatellites at the OarAE64, OarHH22, OarHH56, OarHH62 and OarVH4 loci. Anim Genet (1994) 0.80
Interrelationships between the key elements of the vitamin D endocrine system: 25-OH-D3-1-hydroxylase, serum calcium and phosphorus levels, intestinal 1,25(OH)2D3, and intestinal calcium binding protein. Adv Exp Med Biol (1977) 0.80
Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis (1996) 0.79
Is carbohydrate-deficient transferrin a specific marker for alcohol abuse? A study in patients with chronic viral hepatitis. Alcohol Clin Exp Res (1997) 0.79
Assessment of nutritional correlates of blood pressure. Ann Intern Med (1983) 0.78
Adenosine and migraine. Can J Neurol Sci (1998) 0.77
Benign prostate hyperplasia: evaluation of treatment response with DCE MRI. MAGMA (2004) 0.77
In vitro cytokine profiles as indicators of relapse activity and clinical course in multiple sclerosis. Mult Scler (1998) 0.76
IgE and T-cell responses to high-molecular weight allergens from bee venom. Clin Exp Allergy (1999) 0.76
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J Inherit Metab Dis (2008) 0.75
INFECTION OF HAEMOTHORAX BY ANAEROBIC GAS-PRODUCING BACILLI. Br Med J (1917) 0.75
Assessing multiple sclerosis activity: is the in vitro production of tumor necrosis factor-alpha, interleukins 2, 6, 4, and 10, and immunoglobulin G of value? J Neurol (1999) 0.75
[Electric pacing of the heart by permanent endocavitary electrode (apropos of 31 cases)]. Mars Med (1965) 0.75
Chicken red blood cell adenylate deaminase: purification and comparison with the enzymes from chicken brain and muscle. Comp Biochem Physiol B (1973) 0.75
THE "INFECTIVE GRANULE" AS THE INITIAL PHASE IN THE LIFE-HISTORY OF A HAEMOGREGARINE: (Preliminary Note.). Br Med J (1912) 0.75
Diet and hypertension: an update on recent research. ASDC J Dent Child (1983) 0.75
Overview of field studies. Qual Assur (1994) 0.75
INFECTION OF HAEMOTHORAX BY ANAEROBIC GAS-PRODUCING BACILLI. Br Med J (1917) 0.75
ON SOME ANAEROBES FOUND IN WOUNDS AND THEIR MODE OF ACTION IN THE TISSUES. Br Med J (1917) 0.75
Electrophoretic analyses in a case of monoclonal gamma chain disease. Electrophoresis (1998) 0.75
AMP-deaminases from avian brain and muscle: catalytic and immunological differences. Comp Biochem Physiol (1969) 0.75
Comparison of butorphanol tartrate and meperidine in moderate to severe renal colic. Urology (1987) 0.75
Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG) Eur J Pediatr (1997) 0.75
A SIMPLE DEVICE FOR THE GROWTH OF ANAEROBES ON PLATES. Br Med J (1917) 0.75