Cerebral creatine transporter deficiency: An infradiagnosed neurometabolic disease;Deficiencia del transportador de creatina cerebral: una enfermedad neurometabólica infradiagnosticada

Revista de Neurologia

Volumn 44, Issue 6, 2007, Pages 343-347

  Campistol, Jaume ^a,c   Arias Dimas, A ^a   Poo A P ^a   Pineda, M ^a   Hoffman, M ^a   Vilaseca, M A ^a   Artuch, R ^a   Ribes, A ^b  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Arginine; Autism; Creatine; Developmental delay; Epilepsy; Language delay; Magnetic resonance spectroscopy; Transporter

Indexed keywords

ARGININE; CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; CARRIER PROTEIN; CREATINE TRANSPORTER; UNCLASSIFIED DRUG;

AMINO ACID DEFICIENCY; ARTICLE; AUTISM; BRAIN; CASE REPORT; EPILEPSY; FIBROBLAST; GENE; HUMAN; LANGUAGE; MALE; MENTAL DISEASE; METABOLIC DISORDER; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; RETROSPECTIVE STUDY; SEX; SPECTROSCOPY; URINE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; HISTOLOGY; INFANT; METABOLISM; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; CHILD, PRESCHOOL; CREATINE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; RETROSPECTIVE STUDIES;

EID: 34250335348     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4406.2006389     Document Type: Article

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