M. Rodés

发表

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2006, Journal of Human Genetics.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2007, Journal of Human Genetics.

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.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

T. Saheki, P. Briones, M. Vilaseca, 2001, Molecular genetics and metabolism.

Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient

T. Suormala, A. Ribes, P. Briones, 1990, European Journal of Pediatrics.

Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet.

J. A. Arranz, J. Soler, N. Virgili, 2004, JPEN. Journal of parenteral and enteral nutrition.

Analysis of the CTNS gene in 32 cystinosis patients from Spain

M. Rodés, J. Macías-Vidal, M. Coll, 2009, Clinical genetics.

Effect of Abscisic Acid on Pool Sizes of Free Amino Acids in Lemna minor L. Cultures

J. Plaixats, M. Rodés, J. Andres, 1987 .