MARIA DE LA LUZ
COUCE PICO
Senior university lecturer
![Foto de MARIA DE LA LUZ](/img/nophoto.png)
![Foto de Hospital Universitario La Fe](/img/noimage_org.png)
Hospital Universitario La Fe
Valencia, EspañaPublications in collaboration with researchers from Hospital Universitario La Fe (41)
2024
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New variants expand the neurological phenotype of COQ7 deficiency
Journal of Inherited Metabolic Disease
2023
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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
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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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Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)
European Journal of Clinical Nutrition
2022
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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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Postauthorization safety study of betaine anhydrous
Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733
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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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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Journal of Clinical Medicine, Vol. 11, Núm. 17
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
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Vitamin C and folate status in hereditary fructose intolerance
European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739
2021
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Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA
International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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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
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Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance
Journal of Clinical Medicine, Vol. 10, Núm. 13
2020
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
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The Influence of Donor Milk Supplementation on Duration of Parenteral Nutrition in Preterm Infants
Journal of Human Lactation, Vol. 36, Núm. 2, pp. 245-253
2019
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Betaine anhydrous in homocystinuria: Results from the RoCH registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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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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Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth
Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800
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Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment
Journal of Clinical Medicine, Vol. 8, Núm. 11