title: A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
authors.forename: Patricia
authors.initials: P
authors.lastname: Alcaide
authors.forename: Pilar
authors.initials: P
authors.lastname: Rodriguez-Pombo
authors.forename: Pedro
authors.initials: P
authors.lastname: Ruiz-Sala
authors.forename: Isaac
authors.initials: I
authors.lastname: Ferrer
authors.forename: Pedro
authors.initials: P
authors.lastname: Castro
authors.forename: Yolanda
authors.initials: Y
authors.lastname: Ruiz Martin
authors.forename: Begoña
authors.initials: B
authors.lastname: Merinero
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D020157:Amino Acid Transport Disorders, Inborn / Q000235:genetics* / Q000378:metabolism; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D003401:Creatine / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000235:genetics*; D014316:Tritium / Q000378:metabolism
chemical_list: D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D014316:Tritium; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine