MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (26)
2023
2022
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An updated view on human neonatal thermogenesis
Nature Reviews Endocrinology
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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
2021
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Galactokinase deficiency: lessons from the GalNet registry
Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210
2020
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Bone status in patients with phenylketonuria: A systematic review
Nutrients, Vol. 12, Núm. 7, pp. 1-15
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Rapid phenotype‐driven gene sequencing with the neoseq panel: A diagnostic tool for critically ill newborns with suspected genetic disease
Journal of Clinical Medicine, Vol. 9, Núm. 8, pp. 1-18
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
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Effects of LC-PUFA supplementation in patients with phenylketonuria: A systematic review of controlled trials
Nutrients, Vol. 11, Núm. 7
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Identification and characterization of new variants in FOXRED1 gene expands the clinical spectrum associated with mitochondrial complex I deficiency
Journal of Clinical Medicine, Vol. 8, Núm. 8
2018
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Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain
Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221
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Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413
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Effects of Dairy Product Consumption on Height and Bone Mineral Content in Children: A Systematic Review of Controlled Trials
Advances in nutrition (Bethesda, Md.), Vol. 10, Núm. 2, pp. S88-S96
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
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Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease
Human Mutation, Vol. 38, Núm. 6, pp. 678-691
2016
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Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study
Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1
2015
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Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency
Pediatrics, Vol. 136, Núm. 2, pp. e424-e432
2014
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1