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 · 155 citations

Medicine, Internal Medicine, Neurology +4

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 · 146 citations

Medicine, Child Health, Pediatrics +5

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 · 133 citations

Life Sciences, Genetics, Molecular Genetics +8

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

Life Sciences, Biochemistry, Cell Biology +14

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 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13