Jörg Schaper

TL;DR: The most important clinical aspects of Leigh syndrome are reviewed, and diagnostic steps as well as treatment options are discussed.

TL;DR: There was an overall improvement in left ventricular mass, cardiac function, skeletal muscle function and histological appearance of skeletal muscle and enzyme replacement therapy was in general well-tolerated.

TL;DR: Multiple intravenous administrations of these macrocyclic GBCAs in children were not associated with a measurable increase in SI in T1 sequences as an indicator of brain gadolinium deposition detectable by using MR imaging.

TL;DR: Exome sequencing in a 16-year-old adolescent suffering from an infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy and peripheral neuropathy, uncovered a homozygous stop mutation in TXN2, suggesting an important role of reactive oxygen species homeostasis for human neuronal maintenance and energy metabolism.

TL;DR: A multimodal strategy integrating PEI-regional deep hyperthermia and tumour resection with or without radiation can successfully treat children and adolescents with refractory or recurrent malignant non-testicular germ-cell tumours.