María Josep Coll

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

C. Iturriaga, M. Pineda, E.M. Fernández-Valero et al. · Journal of the Neurological Sciences · 2006 · 148 citations

Niemann–pick C Disease, Inherited Metabolic Disease, Clinical Epidemiology +5

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

M. Pineda, María‐Socorro Pérez‐Poyato, Mar O’Callaghan et al. · Molecular Genetics and Metabolism · 2009 · 137 citations

Pediatric Neurosurgery, Pediatric Patients, Pediatrics +4

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Christiane Busquets, B. Merinero, Ernst Christensen et al. · Pediatric Research · 2000 · 132 citations · Full text

Aldehyde Dehydrogenase, Metabolic Disorder, Genetics +6

Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cells.

Oriol Bachs, L Lanini, Joan Serratosa et al. · Journal of Biological Chemistry · 1990 · 97 citations · Full text

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

Raül Santamaría, Amparo Chabás, María Josep Coll et al. · Human Mutation · 2006 · 72 citations · Full text