Laura Gort

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC)

Eva Richard, Ana Jorge‐Finnigan, Judit García‐Villoria et al. · Human Mutation · 2009 · 96 citations

Life Sciences, Genetics, Molecular Genetics +16

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Gustavo Tiscórnia, Erika Lorenzo-Vivas, Leslie Matalonga et al. · Human Molecular Genetics · 2012 · 82 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16

Natural history of Sanfilippo syndrome in Spain

Verónica Delgadillo, María del Mar O’Callaghan, Laura Gort et al. · Orphanet Journal of Rare Diseases · 2013 · 71 citations · Full text

Life Sciences, Genetics, Pathology +15

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Juan Darío Ortigoza‐Escobar, Marta Molero-Luís, Ángela Arias et al. · Brain · 2015 · 68 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Mercedes Serrano, Víctor de Diego, Jordi Muchart et al. · Orphanet Journal of Rare Diseases · 2015 · 65 citations · Full text

Medicine, Neurology, Pediatrics +17