Isaura Ribeiro

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos et al. · European Journal of Human Genetics · 2003 · 347 citations · Full text

Lysosomal Storage Diseases, Mendelian Disorder, Genetic Disorder +7

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

Isaura Ribeiro, Ana Marcão, Olga Amaral et al. · Human Genetics · 2001 · 104 citations

Npc1 Mutations, Pathogenesis, Molecular Biology +4

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Amelia Morrone, Karen Tylee, Moeenaldeen AlSayed et al. · Molecular Genetics and Metabolism · 2014 · 56 citations · Full text

Isolation, purification and characterization of glycosaminoglycans in the fluids of the mollusc Anodonta cygnea

Manuel Lopes‐Lima, Isaura Ribeiro, Rui Pinto et al. · Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology · 2005 · 33 citations

Bioanalysis, Glycobiology, Polysaccharide +5

Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Mariana Alves, Emmanuelle Le Trionnaire, Isaura Ribeiro et al. · Molecular Genetics and Metabolism · 2013 · 30 citations

Acid Ceramidase Deficiency, Genetic Disorder, Genetics +9