Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2446-2452

  Mencarelli, Maria Antonietta ^a,b   Tassini, Maria ^a   Pollazzon, Marzia ^a   Vivi, Antonio ^a   Calderisi, Marco ^a   Falco, Michele ^c   Fichera, Marco ^c   Monti, Lucia ^b   Buoni, Sabrina ^b   Mari, Francesca ^a,b   Engelke, Udo ^d   Wevers, Ron A ^d   Hayek, Joussef ^b   Renieri, Alessandra ^a,b  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c OASI RESEARCH INSTITUTE IRCCS   (Italy)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine deficiency syndrome; Magnetic resonance spectroscopy; NMR urine; SLC6A8

Indexed keywords

CREATINE; CREATININE;

ADOLESCENT; ADULT; ANALYTICAL PARAMETERS; ARTICLE; BRAIN LEVEL; CHILD; CONTROLLED STUDY; CREATINE CREATININE RATIO; FEASIBILITY STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; SCL6A8 GENE; SCREENING TEST; URINALYSIS;

BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CREATINE; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENTAL RETARDATION, X-LINKED; MUTATION; NERVE TISSUE PROTEINS; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; POLYMERASE CHAIN REACTION;

EID: 80053129864     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34208     Document Type: Article

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