Publications in collaboration with researchers from Paracelsus Private Medical University of Salzburg (4)

2019

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

    Annals of Neurology, Vol. 82, Núm. 6, pp. 1004-1015

2009

  1. PDH E 1 β deficiency with novel mutations in two patients with Leigh syndrome

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1