Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects

Pediatric Neurology

Volumn 42, Issue 3, 2010, Pages 163-171

  Nasrallah, Fahmi ^a   Feki, Moncef ^a   Kaabachi, Naziha ^a  

^a LA RABTA HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; CREATINE; CREATINE KINASE BB; CREATINE PHOSPHATE; CREATININE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; ORNITHINE;

AMINO ACID ANALYSIS; AMINO ACID DEFICIENCY; AMINO ACID METABOLISM; AMINO ACID SYNTHESIS; AMINO ACID URINE LEVEL; ARGININE GLYCINE AMIDINOTRANSFERASE DEFICIENCY; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; BIOSYNTHESIS; BRAIN; BRAIN DAMAGE; CENTRAL NERVOUS SYSTEM FUNCTION; CONCENTRATION (PARAMETERS); CREATININE BLOOD LEVEL; DIET RESTRICTION; ENERGY METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME LOCALIZATION; EPILEPSY; GENE LOCATION; GENE LOCUS; GENETIC DISORDER; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; IN VIVO STUDY; INBORN ERROR OF METABOLISM; INTESTINE ABSORPTION; KIDNEY; LABORATORY DIAGNOSIS; LANGUAGE DISABILITY; LIVER; LOADING TEST; MEMBRANE STABILIZATION; MENTAL DEFICIENCY; METABOLIC TRANSPORT DISORDER; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; PROTON NUCLEAR MAGNETIC RESONANCE; REVIEW; SKELETAL MUSCLE; SLC6A8 DEFICIENCY; SPEECH DISORDER; TESTIS; TISSUE METABOLISM; VITAMIN SUPPLEMENTATION;

AMIDINOTRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; AUTISTIC DISORDER; CHILD; CREATINE; EPILEPSY; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION; MOVEMENT DISORDERS; POINT MUTATION;

EID: 76249097469     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.07.015     Document Type: Review

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