Page last updated: 2024-10-17

creatine and Child Development Deviations

creatine has been researched along with Child Development Deviations in 43 studies

Research Excerpts

ExcerptRelevanceReference
"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."7.79Biochemical, 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."7.71X-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."6.49Inborn 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."5.32Indolyl-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."3.96Homoarginine- 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."3.85Laboratory 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."3.85Fifteen-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."3.83Creatine 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."3.79Biochemical, 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."3.71X-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."2.61Benefits 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."2.49Inborn 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."1.62Locus 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."1.42Arginine: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."1.39Disturbed 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."1.32Indolyl-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."1.29Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. ( Frahm, J; Hanefeld, F; Stöckler, S, 1996)

Research

Studies (43)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (6.98)18.2507
2000's12 (27.91)29.6817
2010's19 (44.19)24.3611
2020's9 (20.93)2.80

Authors

AuthorsStudies
Balestrino, M1
Adriano, E1
Kirby, T1
Walters, DC1
Brown, M1
Jansen, E1
Salomons, GS6
Turgeon, C1
Rinaldo, P1
Arning, E1
Ashcraft, P1
Bottiglieri, T1
Roullet, JB1
Gibson, KM1
Jensen, M1
Müller, C1
Schwedhelm, E2
Arunachalam, P1
Gelderblom, M1
Magnus, T1
Gerloff, C2
Zeller, T1
Choe, CU3
Neu, A1
Hornig, S1
Sasani, A1
Isbrandt, D3
Tsikas, D1
Alessandrì, MG2
Strigini, F1
Cioni, G3
Battini, R4
Brugger, M1
Brunet, T1
Wagner, M1
Orec, LE1
Schwaibold, EMC1
Boy, N1
Branovets, J1
Karro, N1
Barsunova, K1
Laasmaa, M1
Lygate, CA1
Vendelin, M1
Birkedal, R1
Shi, K1
Zhao, H1
Xu, S1
Han, H1
Li, W1
Ostojic, SM1
Rostami, P1
Hosseinpour, S1
Ashrafi, MR1
Alizadeh, H1
Garshasbi, M1
Tavasoli, AR1
Schulze, A2
Comeaux, MS1
Wang, J1
Wang, G1
Kleppe, S1
Zhang, VW1
Schmitt, ES1
Craigen, WJ1
Renaud, D1
Sun, Q1
Wong, LJ2
Nouioua, S2
Cheillan, D2
Zaouidi, S1
Amedjout, N1
Kessaci, F1
Boulahdour, N1
Hamadouche, T1
Tazir, M2
Kato, H1
Miyake, F1
Shimbo, H1
Ohya, M1
Sugawara, H1
Aida, N1
Anzai, R1
Takagi, M1
Okuda, M1
Takano, K1
Wada, T1
Iai, M1
Yamashita, S1
Osaka, H1
Tran, C1
Yazdanpanah, M1
Kyriakopoulou, L1
Levandovskiy, V1
Zahid, H1
Naufer, A1
Clark, JF1
Cecil, KM2
Stockler-Ipsiroglu, S1
Apatean, D1
DeBrosse, S1
Dessoffy, K1
Edvardson, S1
Eichler, F1
Johnston, K2
Koeller, DM1
Verma, A1
Dowling, MD1
Wierenga, KJ1
Wierenga, AM1
Zhang, V1
Joncquel-Chevalier Curt, M1
Voicu, PM1
Fontaine, M1
Dessein, AF1
Porchet, N1
Mention-Mulliez, K1
Dobbelaere, D1
Soto-Ares, G1
Vamecq, J1
Hanna-El-Daher, L1
Braissant, O2
Thurm, A1
Himelstein, D1
DʼSouza, P1
Rennert, O1
Jiang, S1
Olatunji, D1
Longo, N2
Pasquali, M1
Swedo, S1
Carrillo, N1
Pacheva, I1
Ivanov, I1
Penkov, M1
Kancheva, D1
Jordanova, A1
Ivanova, M1
Sharer, JD1
Bodamer, O1
Tortorelli, S1
Wamelink, MM1
Young, S1
Casalini, C1
Casarano, M1
Tosetti, M1
Barger, AV1
Campeau, NG1
Port, JD1
Renaud, DL1
Verbruggen, KT2
Maurits, NM1
Meiners, LC1
Brouwer, OF1
van Spronsen, FJ2
Sijens, PE2
Kosucu, P1
Erdemli, S1
Sönmez, M1
Kul, S1
Aksoy, A1
Ndika, JD1
Barkovich, JA1
Wirt, MD1
O'Neill, P1
Betsalel, OT1
Jakobs, C2
Nabuurs, CI1
Veltien, A1
Kan, HE1
van Loon, LJ1
Rodenburg, RJ1
Matschke, J1
Wieringa, B1
Kemp, GJ1
Heerschap, A1
Leuzzi, V1
Mastrangelo, M1
Snow, RJ1
Friedman, SD2
Shaw, DW2
Artru, AA2
Richards, TL1
Gardner, J1
Dawson, G2
Posse, S1
Dager, SR2
Bull, G1
Shattock, P1
Whiteley, P1
Anderson, R1
Groundwater, PW1
Lough, JW1
Lees, G1
Martin, E1
Keller, M1
Ritter, S1
Largo, RH1
Thiel, T1
Loenneker, T1
Fayed, N1
Morales, H1
Modrego, PJ1
Muñoz-Mingarro, J1
Petropoulos, H1
Knijff, WA1
Soorani-Lunsing, RJ1
Verhoeven, NM2
Goorhuis-Brouwer, SM1
Henry, H1
Anselm, IA1
Coulter, DL1
Darras, BT1
Stöckler, S1
Hanefeld, F1
Frahm, J1
Li, LM1
Cendes, F1
Bastos, AC1
Andermann, F1
Dubeau, F1
Arnold, DL1
Barkovich, AJ1
Baranski, K1
Vigneron, D1
Partridge, JC1
Hallam, DK1
Hajnal, BL1
Ferriero, DM1
van Dooren, SJ1
Ball, WS1
Degrauw, TJ1
Filippi, CG1
Uluğ, AM1
Deck, MD1
Zimmerman, RD1
Heier, LA1

Clinical Trials (2)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Effect of Creatine Monohydrate on Persistent Post-concussive Symptoms - a Pilot Study Protocol[NCT05562232]45 participants (Anticipated)Interventional2022-10-01Not yet recruiting
Clinical and Immunological Investigations of Subtypes of Autism[NCT00298246]557 participants (Actual)Observational2006-02-22Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

8 reviews available for creatine and Child Development Deviations

ArticleYear
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
    Nutritional neuroscience, 2019, Volume: 22, Issue:5

    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.
    Acta neurologica Belgica, 2020, Volume: 120, Issue:3

    Topics: Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Creatine; Delayed Diagnosis; Development

2020
Creatine deficiency syndromes.
    Handbook of clinical neurology, 2013, Volume: 113

    Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err

2013
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.
    Pediatric research, 2015, Volume: 77, Issue:3

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Creati

2015
Creatine biosynthesis and transport in health and disease.
    Biochimie, 2015, Volume: 119

    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?
    Amino acids, 2016, Volume: 48, Issue:8

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Blood-Brain Barrier; Brain Disea

2016
Inborn errors of creatine metabolism and epilepsy.
    Epilepsia, 2013, Volume: 54, Issue:2

    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.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:2

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Brain; Creatine; Developmental D

2008

Trials

1 trial available for creatine and Child Development Deviations

ArticleYear
Regional brain chemical alterations in young children with autism spectrum disorder.
    Neurology, 2003, Jan-14, Volume: 60, Issue:1

    Topics: Age Distribution; Age Factors; Aspartic Acid; Autistic Disorder; Brain; Cell Count; Child, Preschool

2003

Other Studies

34 other studies available for creatine and Child Development Deviations

ArticleYear
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice.
    Amino acids, 2020, Volume: 52, Issue:4

    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.
    Metabolic brain disease, 2020, Volume: 35, Issue:4

    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.
    International journal of molecular sciences, 2020, Mar-09, Volume: 21, Issue:5

    Topics: Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Creatine; Devel

2020
Creatine, guanidinoacetate and homoarginine in statin-induced myopathy.
    Amino acids, 2020, Volume: 52, Issue:6-7

    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.
    BMC pregnancy and childbirth, 2020, Sep-03, Volume: 20, Issue:1

    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.
    Gene, 2021, Feb-05, Volume: 768

    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.
    American journal of physiology. Heart and circulatory physiology, 2021, 02-01, Volume: 320, Issue:2

    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.
    Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:4

    Topics: Child; Cognition; Creatine; Developmental Disabilities; Dietary Supplements; Drug Tolerance; Humans;

2021
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
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
    Neuromuscular disorders : NMD, 2013, Volume: 23, Issue:8

    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.
    Brain & development, 2014, Volume: 36, Issue:7

    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.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Sep-25, Volume: 436

    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.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:4

    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.
    Journal of developmental and behavioral pediatrics : JDBP, 2016, Volume: 37, Issue:4

    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.
    Annals of clinical and laboratory science, 2016, Volume: 46, Issue:5

    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.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:2

    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.
    Orphanet journal of rare diseases, 2017, 02-02, Volume: 12, Issue:1

    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.
    Pediatric neurology, 2009, Volume: 40, Issue:5

    Topics: Brain; Brain Chemistry; Creatine; Developmental Disabilities; Glycine; Humans; Infant; Magnetic Reso

2009
Quantitative multivoxel proton spectroscopy of the brain in developmental delay.
    Journal of magnetic resonance imaging : JMRI, 2009, Volume: 30, Issue:4

    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.
    AJR. American journal of roentgenology, 2010, Volume: 194, Issue:4

    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.
    Molecular genetics and metabolism, 2012, Volume: 106, Issue:1

    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.
    The Journal of physiology, 2013, Jan-15, Volume: 591, Issue:2

    Topics: Adenosine Triphosphate; Amidinotransferases; Amino Acid Metabolism, Inborn Errors; Animals; Creatine

2013
AGAT knockout mice provide an opportunity to titrate tissue creatine content.
    The Journal of physiology, 2013, Jan-15, Volume: 591, Issue:2

    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.
    Medical science monitor : international medical journal of experimental and clinical research, 2003, Volume: 9, Issue:10

    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.
    Pediatric research, 2005, Volume: 58, Issue:4

    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?
    Academic radiology, 2006, Volume: 13, Issue:2

    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.
    Archives of general psychiatry, 2006, Volume: 63, Issue:7

    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.
    European journal of pediatrics, 2007, Volume: 166, Issue:9

    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.
    Neurology, 2008, Apr-29, Volume: 70, Issue:18

    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.
    Lancet (London, England), 1996, Sep-21, Volume: 348, Issue:9030

    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.
    Neurology, 1998, Volume: 50, Issue:3

    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.
    AJNR. American journal of neuroradiology, 1999, Volume: 20, Issue:8

    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.
    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
Developmental delay in children: assessment with proton MR spectroscopy.
    AJNR. American journal of neuroradiology, 2002, Volume: 23, Issue:5

    Topics: Aging; Aspartic Acid; Brain; Child; Child, Preschool; Choline; Creatine; Developmental Disabilities;

2002