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GUILLEM PINTOS-MORELL
GUILLEM PINTOS-MORELL
Vall d'Hebron University Hospital & Research Institute, Barcelona
Verified email at vhir.org - Homepage
Title
Cited by
Cited by
Year
Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision
J Häberle, A Burlina, A Chakrapani, M Dixon, D Karall, M Lindner, ...
Journal of inherited metabolic disease 42 (6), 1192-1230, 2019
3682019
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
U Ramaswami, C Whybra, R Parini, G Pintos‐Morell, A Mehta, ...
Acta paediatrica 95 (1), 86-92, 2006
3292006
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ...
Nature communications 7 (1), 11601, 2016
2762016
Recommendations for the management of tyrosinaemia type 1
C De Laet, C Dionisi-Vici, JV Leonard, P McKiernan, G Mitchell, L Monti, ...
Orphanet journal of rare diseases 8, 1-9, 2013
2612013
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
2442015
Fabry disease and the skin: data from FOS, the Fabry outcome survey
CH Orteu, T Jansen, O Lidove, R Jaussaud, DA Hughes, G Pintos‐Morell, ...
British Journal of Dermatology 157 (2), 331-337, 2007
2082007
Effects of enzyme replacement therapy in Fabry disease—a comprehensive review of the medical literature
O Lidove, ML West, G Pintos-Morell, R Reisin, K Nicholls, LE Figuera, ...
Genetics in Medicine 12 (11), 668-679, 2010
1472010
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis
M Beck, D Hughes, C Kampmann, S Larroque, A Mehta, G Pintos-Morell, ...
Molecular genetics and metabolism reports 3, 21-27, 2015
1452015
Fabry disease
A Mehta, DA Hughes
Seattle (WA), 1993
1381993
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease
U Ramaswami, S Wendt, G Pintos‐Morell, R Parini, C Whybra, ...
Acta paediatrica 96 (1), 122-127, 2007
1312007
Fabry disease in children and the effects of enzyme replacement treatment
G Pintos-Morell, M Beck
European journal of pediatrics 168, 1355-1363, 2009
842009
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey
U Ramaswami, R Parini, G Pintos‐Morell, G Kalkum, C Kampmann, ...
Clinical genetics 81 (5), 485-490, 2012
782012
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
C Auray-Blais, CM Blais, U Ramaswami, M Boutin, DP Germain, S Dyack, ...
Clinica chimica acta 438, 195-204, 2015
762015
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
A Santalla, G Nogales-Gadea, AB Encinar, I Vieitez, A González-Quintana, ...
BMC genomics 18, 39-47, 2017
702017
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
E Martín-Hernández, L Aldámiz-Echevarría, E Castejón-Ponce, ...
Orphanet journal of rare diseases 9, 1-14, 2014
612014
Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long‐term outcome
ML Couce, J Dalmau, M Del Toro, G Pintos‐Morell, L Aldámiz‐Echevarría, ...
Pediatrics International 53 (6), 985-989, 2011
592011
Therapeutic goals in the treatment of Fabry disease
A Mehta, ML West, G Pintos-Morell, R Reisin, K Nicholls, LE Figuera, ...
Genetics in Medicine 12 (11), 713-720, 2010
542010
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
U Ramaswami, DE Stull, R Parini, G Pintos-Morell, C Whybra, G Kalkum, ...
Health and Quality of Life Outcomes 10, 1-9, 2012
492012
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey …
C Alcalde-Martin, JM Muro-Tudelilla, R Cancho-Candela, ...
European journal of medical genetics 53 (6), 371-377, 2010
492010
Rare neurodegenerative diseases: clinical and genetic update
A Matilla-Dueñas, M Corral-Juan, A Rodríguez-Palmero Seuma, D Vilas, ...
Rare Diseases Epidemiology: Update and Overview, 443-496, 2017
482017
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