Iria Roca
Santiago De Compostela, GA, Spain
Last Updated: 09/26/2026
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Found 13 publications
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Journal: Medicine
Published: October 03, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Journal: Frontiers in neuroscience
Published: June 21, 2019
Free-access copy-number variant detection tools for targeted next-generation sequencing data.
Journal: Mutation research. Reviews in mutation research
Published: April 13, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
Journal: International journal of molecular sciences
Published: April 03, 2018
Carbohydrate status in patients with phenylketonuria.
Journal: Orphanet journal of rare diseases
Published: February 26, 2018
Arterial stiffness assessment in patients with phenylketonuria.
Journal: Medicine
Published: February 03, 2018
A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 21, 2017
Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.
Journal: Scientific reports
Published: April 25, 2017
Lipid profile status and other related factors in patients with Hyperphenylalaninaemia.
Journal: Orphanet journal of rare diseases
Published: May 25, 2016
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Journal: European journal of human genetics : EJHG
Published: February 25, 2016
Last Updated: 09/26/2026