Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Fe (9)

2023

  1. 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. Vitamin C and folate status in hereditary fructose intolerance

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

2021

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

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

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

2010

  1. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771

  2. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2007

  1. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713