Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing
- Benjamin Nota
- , Eline M Hamilton
- , Daoud Sie
- , Senay Ozturk
- , Silvy J M van Dooren
- , Matilde R Fernandez Ojeda
- , Cornelis Jakobs
- , Ernst Christensen
- , Edwin P Kirk
- , Jolanta Sykut-Cegielska
- , Allan M Lund
- , Marjo S van der Knaap
- , Gajja S Salomons
20
Citationer
(Scopus)