Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

Clinical Biochemistry

Volumn 40, Issue 16-17, 2007, Pages 1328-1331

  Arias, Angela ^a   Corbella, Marc ^b   Fons, Carmen ^b   Sempere, Angela ^b   García Villoria, Judit ^a   Ormazabal, Aida ^b   Poo, Pilar ^b   Pineda, Mercé ^b   Vilaseca, María Antonia ^b   Campistol, Jaume ^b   Briones, Paz ^a   Pàmpols, Teresa ^a   Salomons, Gajja S ^c   Ribes, Antonia ^a   Artuch, Rafael ^b  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cerebral creatine deficiency syndrome; Creatine; Creatine transporter deficiency; Creatinine; Guanidinoacetate

Indexed keywords

CREATINE; CREATININE; PROTEIN;

ADOLESCENT; ADULT; AMINO ACID DEFICIENCY; ARTICLE; AUTISM; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; CREATINE TRANSPORTER DEFICIENCY; CREATININE URINE LEVEL; DRUG URINE LEVEL; EGG; FALSE POSITIVE RESULT; FISH; FOOD INTAKE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN TISSUE; MALE; MASS SPECTROMETRY; MEAL; MENTAL DEFICIENCY; METABOLITE; OBSERVATIONAL STUDY; PASTA; PREVALENCE; PRIORITY JOURNAL; RANK SUM TEST; SCREENING; STATISTICAL SIGNIFICANCE; URINALYSIS; VOLUNTEER;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CREATINE; CREATININE; GLYCINE; HUMANS; INFANT; MALE; MASS SCREENING; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION; METABOLISM, INBORN ERRORS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 35248884675     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2007.07.010     Document Type: Article

References (14)

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