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