MARIA DE LA LUZ
COUCE PICO
Profesora titular de universidade
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublikationen in Zusammenarbeit mit Forschern von 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