Daisy Castiñeiras

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

María L. Couce, Daisy Castiñeiras, Ma Dolores Bóveda et al. · Molecular Genetics and Metabolism · 2011 · 102 citations · Full text

Public Health, Child Health, Pediatrics +16

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

María L. Couce, Olalla López-Suárez, Ma Dolores Bóveda et al. · European Journal of Paediatric Neurology · 2013 · 63 citations · Full text

Medicine, Internal Medicine, Nephrology +6

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

María L. Couce, M. Dolores Bóveda, Concepción García-Jimémez et al. · Molecular Genetics and Metabolism · 2013 · 33 citations · Full text

Medicine, Biochemistry, Pediatrics +16

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment

M. Dolores Bóveda, María L. Couce, Daisy Castiñeiras et al. · Journal of Inherited Metabolic Disease · 2007 · 33 citations

Life Sciences, Biochemistry, Clinical Biochemistry +2