MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Publicacións (353) Publicacións de MARIA DE LA LUZ COUCE PICO
2024
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3D Printing of Dietary Products for the Management of Inborn Errors of Intermediary Metabolism in Pediatric Populations
Nutrients, Vol. 16, Núm. 1
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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Frontiers in Genetics
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CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES
BOLETIN DE PEDIATRIA, Vol. 64, Núm. 267, pp. 29-38
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Translational Research, Vol. 269, pp. 47-63
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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency
BMC Pediatrics, Vol. 24, Núm. 1
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Infecciones relacionadas con la asistencia sanitaria en neonatología
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 100, Núm. 1, pp. 46-56
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Long-chain polyunsaturated fatty acids supplementation and sepsis: a systematic review and meta-analysis
Pediatric Research
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Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
International Journal of Molecular Sciences, Vol. 25, Núm. 6
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
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Nutrient Status and Intakes of Adults with Phenylketonuria
Nutrients , Vol. 16, Núm. 16
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Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic
Nutrients, Vol. 16, Núm. 3
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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders
International Journal of Pharmaceutics, Vol. 657
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Pain and heart rate variability in neonates receiving dexmedetomidine
Journal of Perinatology
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Recién nacido pequeño para la edad gestacional: concepto, diagnóstico y caracterización neonatal, seguimiento y recomendaciones
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 2, pp. 124-131
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
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Supplementation for Performance and Health in Patients with Phenylketonuria: An Exercise-Based Approach to Improving Dietary Adherence
Nutrients, Vol. 16, Núm. 5
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2023
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A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B
Journal of Clinical Investigation, Vol. 133, Núm. 2
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Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
Nutrients, Vol. 15, Núm. 16