- 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?
- Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
- A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
- Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
- Did lightning strike twice?
- 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
- Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
- Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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(