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- Journal Article
- A1
- open access
Clinical implementation of gene panel testing for lysosomal storage diseases
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- Journal Article
- A1
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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Database crossing allows better understanding of neuromuscular disorders epidemiology: the Belgian example
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PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
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- Journal Article
- A2
- open access
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Two siblings with myopathy, mild mental retardation and combined OXPHOS deficiencies caused by a mutation in the gene encoding asparaginyl tRNA synthetase, NARS2
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- Journal Article
- A1
- open access
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
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- Journal Article
- A1
- open access
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
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- Journal Article
- A1
- open access
Multiple phenotypes in phosphoglucomutase 1 deficiency
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Did lightning strike twice?
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Neonatal pulmonary haemorrhage: presentation of a medium-chain acyl-CoA dehydrogenase deficiency
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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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)