Publicacións en colaboración con investigadores/as de Hospital Miguel Servet (14)

2024

  1. Improving the Access of Highly Sensitized Patients to Kidney Transplantation From Deceased Donors: The Spanish PATHI Program With Allocation Based on the Virtual Crossmatch

    Transplantation, Vol. 108, Núm. 3, pp. 787-801

  2. Prognostic value of response to first-line hydroxyurea according to IPSET stratification in essential thrombocythemia

    Leukemia

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Diverse large HIV-1 non-subtype B clusters are spreading among men who have sex with men in Spain

    Frontiers in Microbiology, Vol. 10, Núm. APR

2018

  1. Protocolo de diagnóstico y tratamiento de los errores congénitos del metabolismo de la galactosa

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 111-124

2016

  1. Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria

    Journal of Human Genetics, Vol. 61, Núm. 8, pp. 731-744

2015

  1. Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]

    Molecular Genetics and Metabolism

2013

  1. Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

    Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221

2012

  1. Composition of normal and pathological cerebrospinal fluid in neuropathology

    Cerebrospinal Fluid: Functions, Composition and Disorders (Nova Science Publishers, Inc.), pp. 87-106

2011

  1. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

    Genetics in Medicine, Vol. 13, Núm. 3, pp. 230-254

  2. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene

    British Journal of Dermatology, Vol. 165, Núm. 3, pp. 499-505

2010

  1. Nationwide sentinel surveillance of bloodstream Candida infections in 40 tertiary care hospitals in Spain

    Journal of Clinical Microbiology, Vol. 48, Núm. 11, pp. 4200-4206

1999

  1. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions

    European Journal of Human Genetics, Vol. 7, Núm. 3, pp. 386-392