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

Por Skorpen, Johannes, Helland, Ingrid B, Tennøe, Bjørn
Publicado em 2012

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

Por Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Publicado em 2012