Publications by authors named "Roser Colome"

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L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Natalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Salvador Ibáñez-Micó, Beatriz Muñoz-Cabello

Brain· May 2024

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Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
Norito Tamura, Shota Sakai, Loreto Martorell, Roser Colomé, Aya Mizuike

J Biol Chem· November 2021

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Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Alba-Aina Castells, Daniela Gueraldi, Rafel Balada, Alba Tristán-Noguero, Elisenda Cortès-Saladelafont

Sci Rep· June 2019

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Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria.
Claudia Caprile, Jaume Campistol, Laura Puigcerver, Alfonso-Pablo Gutiérrez-Mata, Itziar Alonso-Colmenero

J Clin Exp Neuropsychol· December 2017

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[Neurological, neuropsychological, and ophthalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients].
Alfonso P Gutiérrez-Mata, M Antonia Vilaseca, Antoni Capdevila-Cirera, Mariona Vidal-Oller, Itziar Alonso-Colmenero

Rev Neurol· August 2012

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[Developmental amnesia as a focal cognitive sequela of a neonatal pathology].
Anna Sans, Roser Colomé, Anna López-Sala, Cristina Boix, Jordi Muchart

Rev Neurol· March 2011

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Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.
Loreto Martorell, María T Nascimento, Roser Colome, Jordi Genovés, Montserrat Naudó

J Hum Genet· January 2011

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Cognitive functions and the antioxidant system in phenylketonuric patients.
Rosa Gassió, Rafael Artuch, Maria Antonia Vilaseca, Eugenia Fusté, Roser Colome

Neuropsychology· July 2008

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