Transient temporal lobe changes and a novel mutation in a patient with Menkes disease.
Ozawa
H
H
Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, Tokyo, Japan. ozawa@hachioji-shoni-hp.metro.tokyo.jp
Kodama
H
H
Murata
Y
Y
Takashima
S
S
Noma
S
S
D018389:Codon, Nonsense; D003300:Copper / Q000032:analysis; D004252:DNA Mutational Analysis; D005347:Fibroblasts / Q000737:chemistry; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013702:Temporal Lobe / Q000473:pathology*; D013997:Time Factors
D018389:Codon, Nonsense; D003300:Copper