B. Stoltenborg

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

R. Rodenburg, H. Venselaar, J. Smeitink, 2012, Biochimica et biophysica acta.

Aromatic L-Amino Acid Decarboxylase Deficiency with Hyperdopaminuria. Clinical and Laboratory Findings in Response to Different Therapies

L. Lagae, R. Wevers, G. Hoffmann, 2002, Neuropediatrics.