Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (11)

2024

  1. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

    BMC Pediatrics, Vol. 24, Núm. 1

2021

  1. Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids

    Cytotherapy, Vol. 23, Núm. 5, pp. 399-410

2019

  1. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753

2015

  1. Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102

    Frontiers in Genetics

  2. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics, Vol. 6, Núm. MAR

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531

2013

  1. Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

    European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389

2011

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

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