- Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
- Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
- Did lightning strike twice?
- Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
- Multiple phenotypes in phosphoglucomutase 1 deficiency
- Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies
- A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
Neonatal pulmonary haemorrhage: presentation of a medium-chain acyl-CoA dehydrogenase deficiency
2013) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE. 15(1). p.50-50 Mark(
- Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient