MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Infantil Universitario Niño Jesus de Madrid (28)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2023
2022
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
2021
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Bone mineral density, body composition, and metabolic health of very low birth weight infants fed in hospital following current macronutrient recommendations during the first 3 years of life
Nutrients, Vol. 13, Núm. 3, pp. 1-20
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
2020
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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
2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain
Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626
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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
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
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Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562
2018
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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder
Movement Disorders, Vol. 33, Núm. 6, pp. 992-999
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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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Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus
Medicine (United States), Vol. 97, Núm. 29
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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
Molecular Genetics and Metabolism Reports, Vol. 15, pp. 116-120
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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
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Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis
Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21
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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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project-A 2-year follow-up study
Medicine (United States), Vol. 96, Núm. 19