Epilepsy spectrum in cerebral creatine transporter deficiency.
Fons
Carmen
C
Sempere
Angela
A
Sanmartí
Francesc X
FX
Arias
Angela
A
Póo
Pilar
P
Pineda
Mercedes
M
Ribes
Antonia
A
Merinero
Begoña
B
Vilaseca
Maria A
MA
Salomons
Gajja S
GS
Artuch
Rafael
R
Campistol
Jaume
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002675:Child, Preschool; D003401:Creatine / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000706:statistics & numerical data; D026901:Membrane Transport Proteins / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics
D026901:Membrane Transport Proteins; C080679:creatine transporter; D003401:Creatine