Publications in collaboration with researchers from University of Padua (34)

2018

  1. Clinical syndromes associated with Coenzyme Q10 deficiency

    Essays in Biochemistry, Vol. 62, Núm. 3, pp. 377-398

  2. Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function

    Human Mutation, Vol. 39, Núm. 3, pp. 406-414

  3. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

2015

  1. Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

    European Journal of Human Genetics, Vol. 23, Núm. 9, pp. 1254-1258

  2. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

  3. The genes of coenzyme Q10 biosynthesis

    Coenzyme Q10: From Fact to Fiction (Nova Science Publishers, Inc.), pp. 205-225

2014

  1. Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

    Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, Vol. 1841, Núm. 11, pp. 1628-1638

  2. Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1842, Núm. 1, pp. 1-6