MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (218)
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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Care levels in neonatal units in Spain: An updated vision for a new reality
Anales de Pediatria, Vol. 98, Núm. 4, pp. 301-307
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NT-PROBNP as a screening tool for low-risk patent ductus arteriousus: a follow-up validation study
European Journal of Pediatrics, Vol. 182, Núm. 12, pp. 5465-5471
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Postnatal exposure to organic pollutants in maternal milk in north-western Spain
Environmental Pollution, Vol. 318
2022
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An updated view on human neonatal thermogenesis
Nature Reviews Endocrinology
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Editorial: NGS technologies of rare diseases diagnosis
Frontiers in Pediatrics
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Editorial: Risk and preventive factors in necrotizing enterocolitis and its complications in premature infants
Frontiers in Pediatrics
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Galactose epimerase deficiency: lessons from the GalNet registry
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331
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Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
International Journal of Molecular Sciences, Vol. 23, Núm. 21
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Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Frontiers in Pediatrics, Vol. 10
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Journal of Pediatrics
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MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance
Endocrinology, Diabetes and Metabolism, Vol. 5, Núm. 5
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Perinatal palliative care
Anales de Pediatria, Vol. 96, Núm. 1, pp. 60.e1-60.e7
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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
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Proteomics in Inherited Metabolic Disorders
International Journal of Molecular Sciences, Vol. 23, Núm. 23
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
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Recommendations for transfusion of blood products in neonatology
Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8
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The Consensus Definition of Bronchopulmonary Dysplasia Is an Adequate Predictor of Lung Function at Preschool Age
Frontiers in Pediatrics, Vol. 10
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
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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