creatine has been researched along with Child Development Deviations in 43 studies
Excerpt | Relevance | Reference |
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"Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency." | 7.79 | Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. ( Comeaux, MS; Craigen, WJ; Kleppe, S; Renaud, D; Schmitt, ES; Sun, Q; Wang, G; Wang, J; Wong, LJ; Zhang, VW, 2013) |
"We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter." | 7.71 | X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( Ball, WS; Cecil, KM; Degrauw, TJ; Jakobs, C; Salomons, GS; van Dooren, SJ; Verhoeven, NM, 2001) |
"Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 6.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
"Autism is a heterogeneous pervasive developmental disorder with a poorly defined aetiology and pathophysiology." | 5.32 | Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders. ( Anderson, R; Bull, G; Groundwater, PW; Lees, G; Lough, JW; Shattock, P; Whiteley, P, 2003) |
"l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies." | 3.96 | Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency. ( Arunachalam, P; Choe, CU; Gelderblom, M; Gerloff, C; Jensen, M; Magnus, T; Müller, C; Schwedhelm, E; Zeller, T, 2020) |
"Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities." | 3.85 | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. ( Bodamer, O; Longo, N; Sharer, JD; Tortorelli, S; Wamelink, MM; Young, S, 2017) |
"Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatment per os." | 3.85 | Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( Alessandrì, MG; Battini, R; Casalini, C; Casarano, M; Cioni, G; Tosetti, M, 2017) |
"Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene." | 3.83 | Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. ( Carrillo, N; DʼSouza, P; Himelstein, D; Jiang, S; Longo, N; Olatunji, D; Pasquali, M; Rennert, O; Salomons, GS; Swedo, S; Thurm, A, 2016) |
"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) |
"We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter." | 3.71 | X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. ( Ball, WS; Cecil, KM; Degrauw, TJ; Jakobs, C; Salomons, GS; van Dooren, SJ; Verhoeven, NM, 2001) |
" AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e." | 2.61 | Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency. ( Ostojic, SM, 2019) |
"Epilepsy is one of the main symptoms in GAMT and CT1 deficiency, whereas the occurrence of febrile convulsions in infancy is a relatively common presenting symptom in all the three above-mentioned diseases." | 2.49 | Inborn errors of creatine metabolism and epilepsy. ( Battini, R; Cioni, G; Leuzzi, V; Mastrangelo, M, 2013) |
"The sister showed additional muscular hypotonia and more pronounced dysmorphic features compared to her brother." | 1.62 | Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. ( Boy, N; Brugger, M; Brunet, T; Orec, LE; Schwaibold, EMC; Wagner, M, 2021) |
"Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy." | 1.42 | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. ( Apatean, D; Battini, R; DeBrosse, S; Dessoffy, K; Dowling, MD; Edvardson, S; Eichler, F; Johnston, K; Koeller, DM; Nouioua, S; Stockler-Ipsiroglu, S; Tazir, M; Verma, A; Wierenga, AM; Wierenga, KJ; Wong, LJ; Zhang, V, 2015) |
"Creatine (Cr) plays an important role in muscle energy homeostasis by its participation in the ATP-phosphocreatine phosphoryl exchange reaction mediated by creatine kinase." | 1.39 | Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake. ( Choe, CU; Heerschap, A; Isbrandt, D; Kan, HE; Kemp, GJ; Matschke, J; Nabuurs, CI; Rodenburg, RJ; van Loon, LJ; Veltien, A; Wieringa, B, 2013) |
"Autism is a heterogeneous pervasive developmental disorder with a poorly defined aetiology and pathophysiology." | 1.32 | Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders. ( Anderson, R; Bull, G; Groundwater, PW; Lees, G; Lough, JW; Shattock, P; Whiteley, P, 2003) |
"Oral creatine replacement has proved to be effective in one child with an inborn error of GAMT." | 1.29 | Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. ( Frahm, J; Hanefeld, F; Stöckler, S, 1996) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 3 (6.98) | 18.2507 |
2000's | 12 (27.91) | 29.6817 |
2010's | 19 (44.19) | 24.3611 |
2020's | 9 (20.93) | 2.80 |
Authors | Studies |
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Balestrino, M | 1 |
Adriano, E | 1 |
Kirby, T | 1 |
Walters, DC | 1 |
Brown, M | 1 |
Jansen, E | 1 |
Salomons, GS | 6 |
Turgeon, C | 1 |
Rinaldo, P | 1 |
Arning, E | 1 |
Ashcraft, P | 1 |
Bottiglieri, T | 1 |
Roullet, JB | 1 |
Gibson, KM | 1 |
Jensen, M | 1 |
Müller, C | 1 |
Schwedhelm, E | 2 |
Arunachalam, P | 1 |
Gelderblom, M | 1 |
Magnus, T | 1 |
Gerloff, C | 2 |
Zeller, T | 1 |
Choe, CU | 3 |
Neu, A | 1 |
Hornig, S | 1 |
Sasani, A | 1 |
Isbrandt, D | 3 |
Tsikas, D | 1 |
Alessandrì, MG | 2 |
Strigini, F | 1 |
Cioni, G | 3 |
Battini, R | 4 |
Brugger, M | 1 |
Brunet, T | 1 |
Wagner, M | 1 |
Orec, LE | 1 |
Schwaibold, EMC | 1 |
Boy, N | 1 |
Branovets, J | 1 |
Karro, N | 1 |
Barsunova, K | 1 |
Laasmaa, M | 1 |
Lygate, CA | 1 |
Vendelin, M | 1 |
Birkedal, R | 1 |
Shi, K | 1 |
Zhao, H | 1 |
Xu, S | 1 |
Han, H | 1 |
Li, W | 1 |
Ostojic, SM | 1 |
Rostami, P | 1 |
Hosseinpour, S | 1 |
Ashrafi, MR | 1 |
Alizadeh, H | 1 |
Garshasbi, M | 1 |
Tavasoli, AR | 1 |
Schulze, A | 2 |
Comeaux, MS | 1 |
Wang, J | 1 |
Wang, G | 1 |
Kleppe, S | 1 |
Zhang, VW | 1 |
Schmitt, ES | 1 |
Craigen, WJ | 1 |
Renaud, D | 1 |
Sun, Q | 1 |
Wong, LJ | 2 |
Nouioua, S | 2 |
Cheillan, D | 2 |
Zaouidi, S | 1 |
Amedjout, N | 1 |
Kessaci, F | 1 |
Boulahdour, N | 1 |
Hamadouche, T | 1 |
Tazir, M | 2 |
Kato, H | 1 |
Miyake, F | 1 |
Shimbo, H | 1 |
Ohya, M | 1 |
Sugawara, H | 1 |
Aida, N | 1 |
Anzai, R | 1 |
Takagi, M | 1 |
Okuda, M | 1 |
Takano, K | 1 |
Wada, T | 1 |
Iai, M | 1 |
Yamashita, S | 1 |
Osaka, H | 1 |
Tran, C | 1 |
Yazdanpanah, M | 1 |
Kyriakopoulou, L | 1 |
Levandovskiy, V | 1 |
Zahid, H | 1 |
Naufer, A | 1 |
Clark, JF | 1 |
Cecil, KM | 2 |
Stockler-Ipsiroglu, S | 1 |
Apatean, D | 1 |
DeBrosse, S | 1 |
Dessoffy, K | 1 |
Edvardson, S | 1 |
Eichler, F | 1 |
Johnston, K | 2 |
Koeller, DM | 1 |
Verma, A | 1 |
Dowling, MD | 1 |
Wierenga, KJ | 1 |
Wierenga, AM | 1 |
Zhang, V | 1 |
Joncquel-Chevalier Curt, M | 1 |
Voicu, PM | 1 |
Fontaine, M | 1 |
Dessein, AF | 1 |
Porchet, N | 1 |
Mention-Mulliez, K | 1 |
Dobbelaere, D | 1 |
Soto-Ares, G | 1 |
Vamecq, J | 1 |
Hanna-El-Daher, L | 1 |
Braissant, O | 2 |
Thurm, A | 1 |
Himelstein, D | 1 |
DʼSouza, P | 1 |
Rennert, O | 1 |
Jiang, S | 1 |
Olatunji, D | 1 |
Longo, N | 2 |
Pasquali, M | 1 |
Swedo, S | 1 |
Carrillo, N | 1 |
Pacheva, I | 1 |
Ivanov, I | 1 |
Penkov, M | 1 |
Kancheva, D | 1 |
Jordanova, A | 1 |
Ivanova, M | 1 |
Sharer, JD | 1 |
Bodamer, O | 1 |
Tortorelli, S | 1 |
Wamelink, MM | 1 |
Young, S | 1 |
Casalini, C | 1 |
Casarano, M | 1 |
Tosetti, M | 1 |
Barger, AV | 1 |
Campeau, NG | 1 |
Port, JD | 1 |
Renaud, DL | 1 |
Verbruggen, KT | 2 |
Maurits, NM | 1 |
Meiners, LC | 1 |
Brouwer, OF | 1 |
van Spronsen, FJ | 2 |
Sijens, PE | 2 |
Kosucu, P | 1 |
Erdemli, S | 1 |
Sönmez, M | 1 |
Kul, S | 1 |
Aksoy, A | 1 |
Ndika, JD | 1 |
Barkovich, JA | 1 |
Wirt, MD | 1 |
O'Neill, P | 1 |
Betsalel, OT | 1 |
Jakobs, C | 2 |
Nabuurs, CI | 1 |
Veltien, A | 1 |
Kan, HE | 1 |
van Loon, LJ | 1 |
Rodenburg, RJ | 1 |
Matschke, J | 1 |
Wieringa, B | 1 |
Kemp, GJ | 1 |
Heerschap, A | 1 |
Leuzzi, V | 1 |
Mastrangelo, M | 1 |
Snow, RJ | 1 |
Friedman, SD | 2 |
Shaw, DW | 2 |
Artru, AA | 2 |
Richards, TL | 1 |
Gardner, J | 1 |
Dawson, G | 2 |
Posse, S | 1 |
Dager, SR | 2 |
Bull, G | 1 |
Shattock, P | 1 |
Whiteley, P | 1 |
Anderson, R | 1 |
Groundwater, PW | 1 |
Lough, JW | 1 |
Lees, G | 1 |
Martin, E | 1 |
Keller, M | 1 |
Ritter, S | 1 |
Largo, RH | 1 |
Thiel, T | 1 |
Loenneker, T | 1 |
Fayed, N | 1 |
Morales, H | 1 |
Modrego, PJ | 1 |
Muñoz-Mingarro, J | 1 |
Petropoulos, H | 1 |
Knijff, WA | 1 |
Soorani-Lunsing, RJ | 1 |
Verhoeven, NM | 2 |
Goorhuis-Brouwer, SM | 1 |
Henry, H | 1 |
Anselm, IA | 1 |
Coulter, DL | 1 |
Darras, BT | 1 |
Stöckler, S | 1 |
Hanefeld, F | 1 |
Frahm, J | 1 |
Li, LM | 1 |
Cendes, F | 1 |
Bastos, AC | 1 |
Andermann, F | 1 |
Dubeau, F | 1 |
Arnold, DL | 1 |
Barkovich, AJ | 1 |
Baranski, K | 1 |
Vigneron, D | 1 |
Partridge, JC | 1 |
Hallam, DK | 1 |
Hajnal, BL | 1 |
Ferriero, DM | 1 |
van Dooren, SJ | 1 |
Ball, WS | 1 |
Degrauw, TJ | 1 |
Filippi, CG | 1 |
Uluğ, AM | 1 |
Deck, MD | 1 |
Zimmerman, RD | 1 |
Heier, LA | 1 |
Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
---|---|---|---|---|---|---|---|
The Effect of Creatine Monohydrate on Persistent Post-concussive Symptoms - a Pilot Study Protocol[NCT05562232] | 45 participants (Anticipated) | Interventional | 2022-10-01 | Not yet recruiting | |||
Clinical and Immunological Investigations of Subtypes of Autism[NCT00298246] | 557 participants (Actual) | Observational | 2006-02-22 | Completed | |||
[information is prepared from clinicaltrials.gov, extracted Sep-2024] |
8 reviews available for creatine and Child Development Deviations
Article | Year |
---|---|
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Clinical Trials as Topic; Creatine; Devel | 2019 |
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Topics: Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Creatine; Delayed Diagnosis; Development | 2020 |
Creatine deficiency syndromes.
Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err | 2013 |
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2015 |
Creatine biosynthesis and transport in health and disease.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; AMP- | 2015 |
Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain Disea | 2016 |
Inborn errors of creatine metabolism and epilepsy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic, Inbor | 2013 |
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D | 2008 |
1 trial available for creatine and Child Development Deviations
Article | Year |
---|---|
Regional brain chemical alterations in young children with autism spectrum disorder.
Topics: Age Distribution; Age Factors; Aspartic Acid; Autistic Disorder; Brain; Cell Count; Child, Preschool | 2003 |
34 other studies available for creatine and Child Development Deviations
Article | Year |
---|---|
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Carnitine; Creatine; Creatinine; De | 2020 |
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel | 2020 |
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2020 |
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Creatine; Developmental Disabilities; Fem | 2020 |
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Topics: Autism Spectrum Disorder; Brain Diseases, Metabolic, Inborn; Child; Chromosomes, Human, Pair 16; Com | 2021 |
Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency.
Topics: Adenosine Diphosphate; Adenylate Kinase; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; | 2021 |
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.
Topics: Child; Cognition; Creatine; Developmental Disabilities; Dietary Supplements; Drug Tolerance; Humans; | 2021 |
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati | 2013 |
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain; Child; Creatine; Developmental Dis | 2013 |
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Topics: Asian People; Brain Diseases, Metabolic, Inborn; Child; Creatine; Developmental Disabilities; Humans | 2014 |
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Liquid; Creatine | 2014 |
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2015 |
Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
Topics: Autism Spectrum Disorder; Brain Diseases, Metabolic, Inborn; Child; Creatine; Developmental Disabili | 2016 |
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.
Topics: Child; Child Behavior; Child, Preschool; Creatine; Developmental Disabilities; Guanidinoacetate N-Me | 2016 |
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Clinic | 2017 |
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Topics: Adolescent; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Crea | 2017 |
MRS is the test of choice for detecting and monitoring disorders of creatine metabolism.
Topics: Brain; Brain Chemistry; Creatine; Developmental Disabilities; Glycine; Humans; Infant; Magnetic Reso | 2009 |
Quantitative multivoxel proton spectroscopy of the brain in developmental delay.
Topics: Aspartic Acid; Brain; Case-Control Studies; Child; Child, Preschool; Choline; Creatine; Developmenta | 2009 |
MR spectroscopic evaluation of psychomotor delay of unknown cause in children.
Topics: Adolescent; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Creatine; Developmental Disabili | 2010 |
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Topics: Amidinotransferases; Brain; Child; Creatine; Developmental Disabilities; Dietary Supplements; Female | 2012 |
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Topics: Adenosine Triphosphate; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine | 2013 |
AGAT knockout mice provide an opportunity to titrate tissue creatine content.
Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine; Developmental Disabili | 2013 |
Indolyl-3-acryloylglycine (IAG) is a putative diagnostic urinary marker for autism spectrum disorders.
Topics: Adolescent; Adult; Age Factors; Autistic Disorder; Biological Assay; Child; Child, Preschool; Chroma | 2003 |
Contribution of proton magnetic resonance spectroscopy to the evaluation of children with unexplained developmental delay.
Topics: Adolescent; Age Factors; Aspartic Acid; Brain; Cerebral Cortex; Child; Child, Preschool; Choline; Cr | 2005 |
White matter proton MR spectroscopy in children with isolated developmental delay: does it mean delayed myelination?
Topics: Aspartic Acid; Biomarkers; Brain; Case-Control Studies; Child; Child, Preschool; Choline; Creatine; | 2006 |
Gray and white matter brain chemistry in young children with autism.
Topics: Aspartic Acid; Autistic Disorder; Brain; Brain Chemistry; Child, Preschool; Choline; Creatine; Cross | 2006 |
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.
Topics: Amino Acids; Child, Preschool; Creatine; Developmental Disabilities; Guanidinoacetate N-Methyltransf | 2007 |
Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
Topics: Base Sequence; Brain Chemistry; Child; Child Behavior Disorders; Creatine; Developmental Disabilitie | 2008 |
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
Topics: Basal Ganglia Diseases; Brain; Creatine; Developmental Disabilities; Guanidinoacetate N-Methyltransf | 1996 |
Neuronal metabolic dysfunction in patients with cortical developmental malformations: a proton magnetic resonance spectroscopic imaging study.
Topics: Adolescent; Adult; Aspartic Acid; Brain; Cerebral Cortex; Child; Creatine; Developmental Disabilitie | 1998 |
Proton MR spectroscopy for the evaluation of brain injury in asphyxiated, term neonates.
Topics: Aspartic Acid; Asphyxia Neonatorum; Brain; Brain Damage, Chronic; Choline; Creatine; Developmental D | 1999 |
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 |
Developmental delay in children: assessment with proton MR spectroscopy.
Topics: Aging; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Creatine; Developmental Disabilities; | 2002 |