M. Antònia Vilaseca

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

X. Estivill, J. Mallolas, M. Milá, 1999, Human Genetics.

Are plasma total homocysteine and other amino acids associated with glucose intolerance in uncomplicated pregnancies and preeclampsia?

J. Lailla, M. Antònia Vilaseca, E. Lopez-Quesada, 2005, European journal of obstetrics, gynecology, and reproductive biology.

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

L. Vilarinho, D. Grinberg, S. Balcells, 2003, Human mutation.

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

M. Baumgartner, G. Scarano, Y. Chien, 2009, Human mutation.