Guillem Pintos‐Morell

Author

Hospital Universitari Germans Trias i Pujol ORCID

Also Known As

G Morell, G P Morell, G PINTOS, G Pintos, G Pintos Díaz, G Pintos Morell, G Pintos-Morell, G Pintos‐Morell, G. Morell, G. Pintos

181

Publications

4.3K

Citations

H-Index

101

Concepts

All Affiliations

Hospital Universitari Germans Trias i Pujol Universitat Autònoma de Barcelona Centre for Biomedical Network Research on Rare Diseases Johannes Gutenberg University Mainz University College London

About

Guillem Pintos‐Morell is an author at Hospital Universitari Germans Trias i Pujol specializing in medicine, pathology, and cellular physiology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	23	682
2	Public Health	3	3	93
3	Engineering	2	2	69
4	Natural Sciences	2	2	36
5	Health Sciences	1	1	17

Guillem Pintos‐Morell

Publications

2.9K

Citations

H-Index

Page 1

	Year	Citations
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Nature Communications	2016	312
Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey Uma Ramaswami, Catharina Whybra, Rossella Parini, Acta Paediatrica	2005	256
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina, Journal of Inherited Metabolic Disease	2015	229
Fabry disease and the skin: data from FOS, the Fabry outcome survey Catherine H. Orteu, Thomas Jansen, Olivier Lidove, British Journal of Dermatology	2007	174
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy Joerg Halter, W. Michael, Michaël Schüpbach, Brain	2015	141
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis Sheila Santín, Rafael García‐Maset, Patricia Ruíz, Kidney International Glomerular DiseaseGlomerulonephritisUrologyRenal FunctionMedicine	2009	130
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis Michael Beck, Derralynn Hughes, Christoph Kampmann, Molecular Genetics and Metabolism Reports	2015	123
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease Uma Ramaswami, S. Wendt, Guillem Pintos‐Morell, Acta Paediatrica	2006	110
Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey Uma Ramaswami, Catharina Whybra, Rossella Parini, Acta Paediatrica Heart FailureFabry DiseaseEnzyme Replacement TherapyInherited Metabolic DiseaseClinical Epidemiology	2006	82
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey Uma Ramaswami, Rossella Parini, Guillem Pintos‐Morell, Clinical Genetics	2011	71

Page 1