Publicacións en colaboración con investigadores/as de Hospital Regional Universitario de Málaga (30)

2023

  1. Care levels in neonatal units in Spain: An updated vision for a new reality

    Anales de Pediatria, Vol. 98, Núm. 4, pp. 301-307

  2. 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

  1. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  2. Perinatal palliative care

    Anales de Pediatria, Vol. 96, Núm. 1, pp. 60.e1-60.e7

  3. Recommendations for transfusion of blood products in neonatology

    Anales de Pediatria, Vol. 97, Núm. 1, pp. 60.e1-60.e8

  4. Vitamin C and folate status in hereditary fructose intolerance

    European Journal of Clinical Nutrition, Vol. 76, Núm. 12, pp. 1733-1739

2021

  1. 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

  2. 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

  3. Sedoanalgesia in neonatal units

    Anales de Pediatria, Vol. 95, Núm. 2, pp. 126.e1-126.e11

  4. Transferrin isoforms, old but new biomarkers in hereditary fructose intolerance

    Journal of Clinical Medicine, Vol. 10, Núm. 13

2020

  1. Home births: A growing phenomenon with potential risks

    Anales de Pediatria, Vol. 93, Núm. 4, pp. 266.e1-266.e6

  2. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  3. Rapid phenotype‐driven gene sequencing with the neoseq panel: A diagnostic tool for critically ill newborns with suspected genetic disease

    Journal of Clinical Medicine, Vol. 9, Núm. 8, pp. 1-18

2019

  1. 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

  2. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  3. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

  4. 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

  5. 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

  1. 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

  2. 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