Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations. Arch Neurol. 2010;67(1):126-130.
SLC19A3遺伝子に二つの新たな変異を認めた、ビオチン応答性基底核疾患の2例
Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment. Neurology 2009 73: 2127-2129.
葉酸受容体アルファ(FOLR1) 遺伝子の機能喪失変異による乳児型脳葉酸欠乏症の家系
