MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Hospital Infantil Universitario Niño Jesus de Madrid
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von 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