MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Rafael
Artuch Iriberri
Publikationen, an denen er mitarbeitet Rafael Artuch Iriberri (8)
2024
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2022
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The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55
2019
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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751
2017
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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1
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Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)
Journal of Inherited Metabolic Disease
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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713
2016
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Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy
European Journal of Human Genetics
2009
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Secondary disorders of glycosylation in inborn errors of fructose metabolism
Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1