Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

by Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn
Published 2012-11-01

Leukoencephalopathy with accumulated succinate is indicative of <it>SDHAF1</it> related complex II deficiency

by Ohlenbusch Andreas, Edvardson Simon, Skorpen Johannes, Bjornstad Alf, Saada Ann, Elpeleg Orly, Gärtner Jutta, Brockmann Knut
Published 2012-09-01