Guillem Pintos‐Morell

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Karin Tuschl, Esther Meyer, Leonardo E. Valdivia et al. · Nature Communications · 2016 · 312 citations · Full text

Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey

Uma Ramaswami, Catharina Whybra, Rossella Parini et al. · Acta Paediatrica · 2005 · 256 citations

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Fabry disease and the skin: data from FOS, the Fabry outcome survey

Catherine H. Orteu, Thomas Jansen, Olivier Lidove et al. · British Journal of Dermatology · 2007 · 174 citations

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Joerg Halter, W. Michael, Michaël Schüpbach et al. · Brain · 2015 · 141 citations · Full text