Publicacións en colaboración con investigadores/as de Centro de Investigación Médica Aplicada (4)

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

  2. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

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

2008

  1. Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme

    Journal of Inherited Metabolic Disease, Vol. 31, Núm. SUPPL. 2