Guillem Pintos‐Morell
Hebron University(PS)Medical Group Management Association(US)Vall d'Hebron Institut de Recerca(ES)Vall d'Hebron Hospital Universitari(ES)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Trypanosoma species research and implications, Metabolism and Genetic Disorders, Biomedical Research and Pathophysiology
Most-Cited Works
- → Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision(2019)449 cited
- → Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia(2016)314 cited
- → Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey(2005)256 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited
- → Recommendations for the management of tyrosinaemia type 1(2013)226 cited
- → Fabry disease and the skin: data from FOS, the Fabry outcome survey(2007)175 cited