Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes

Pediatric Research

Volumn 77, Issue 3, 2015, Pages 398-405

  Clark, Joseph F ^a   Cecil, Kim M ^a,b  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BENZOIC ACID; CREATINE; CREATININE; GLYCINE; GUANIDINOACETIC ACID; ORNITHINE; AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORTER;

AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; AMINO ACID SYNTHESIS; AMINO ACID TRANSPORT; CEREBRAL CREATINE DEFICIENCY SYNDROME; CREATININE URINE LEVEL; DIAGNOSTIC PROCEDURE; GENETIC SCREENING; GENOTYPE; HUMAN; IN VITRO STUDY; METABOLIC ENCEPHALOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; REVIEW; AMINO ACID METABOLISM, INBORN ERRORS; BIOSYNTHESIS; BLOOD; BRAIN DISEASES, METABOLIC, INBORN; DEFICIENCY; DEVELOPMENTAL DISABILITIES; FEMALE; GENETICS; INCIDENCE; INFANT; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MENTAL RETARDATION, X-LINKED; MOVEMENT DISORDERS; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PATHOLOGY; PHYSIOLOGY; PROCEDURES; SEX DIFFERENCE; SPEECH DISORDERS; UNITED STATES; URINE;

AMIDINOTRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC, INBORN; CREATINE; DEVELOPMENTAL DISABILITIES; FEMALE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INCIDENCE; INFANT; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENTAL RETARDATION, X-LINKED; MOVEMENT DISORDERS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; SEX FACTORS; SPEECH DISORDERS; UTAH;

EID: 84928483985     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2014.203     Document Type: Review

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