M. Rodés

Hepatic safety of ketoconazole in Cushing’s syndrome: results of a Compassionate Use Programme in France

Jacques Young, Jérôme Bertherat, Marie‐Christine Vantyghem et al. · European Journal of Endocrinology · 2018 · 63 citations

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

Roser Urreizti, Carla Asteggiano, Marta Bermúdez et al. · Journal of Human Genetics · 2006 · 32 citations · Full text

South America, Mendelian Disorder, Genetic Disorder +11

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

Roser Urreizti, Susana Balcells, M. Rodés et al. · Human Mutation · 2003 · 30 citations · Full text

Plasma free fatty acids in mitochondrial fatty acid oxidation defects

G Martı́nez, Gerardo Jiménez‐Sánchez, P. Divry et al. · Clinica Chimica Acta · 1997 · 27 citations

Biochemistry, Mitochondrial Function, Lipid Peroxidation +4

Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia

Marta Vilaseca, K. Kobayashi, P. Briones et al. · Molecular Genetics and Metabolism · 2001 · 18 citations

Biology, Molecular Ecology, Genetic Disorder +6