Latest publications View all (6) »

1. Published

   The impact of consanguinity on the frequency of inborn errors of metabolism

   Research output: Contribution to journal › Journal article › Research › peer-review

2. Published

   Correspondence to: "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency" and "A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease"

   Research output: Contribution to journal › Journal article › Research › peer-review

3. Published

   Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

   Research output: Contribution to journal › Journal article › Research › peer-review