Margarita Castro

Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?

María‐Luisa Martínez‐Frías, Belén Pérez, Lourdes R. Desviat et al. · American Journal of Medical Genetics Part A · 2006 · 77 citations

Life Sciences, Genetics, Molecular Genetics +16

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

Lourdes R. Desviat, Belén Pérez, Amaya Bélanger-Quintana et al. · Molecular Genetics and Metabolism · 2004 · 65 citations

Life Sciences, Biochemistry, Pharmacology +7

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

Amaya Bélanger‐Quintana, María José García, Margarita Castro et al. · Molecular Genetics and Metabolism · 2005 · 60 citations

Life Sciences, Biochemistry, Pharmacotherapy +12

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

Belén Pérez, Luis González Gutiérrez‐Solana, Alfonso Verdú et al. · Epilepsia · 2013 · 48 citations · Full text

Medicine, Neurology, Pharmacology +16

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

Luisa Arrabal, Libertad Teresa, Rocío Sánchez-Alcudia et al. · Neurogenetics · 2011 · 37 citations

Life Sciences, Genetics, Molecular Genetics +14