A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene.
Alcaide
Patricia
P
Rodriguez-Pombo
Pilar
P
Ruiz-Sala
Pedro
P
Ferrer
Isaac
I
Castro
Pedro
P
Ruiz Martin
Yolanda
Y
Merinero
Begoña
B
Ugarte
Magdalena
M
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
D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; C094770:SLC6A8 protein, human; D014316:Tritium; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine