Lúcia Lacerda

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos et al. · European Journal of Human Genetics · 2003 · 349 citations

Life Sciences, Genetics, Pathology +11

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Bryan Winchester, Deeksha Bali, Olaf A. Bodamer et al. · Molecular Genetics and Metabolism · 2007 · 155 citations

Medicine, Pathology, Clinical Epidemiology +5

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

Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model

Andrea Balreira, Lúcia Lacerda, Clara Sá-Miranda et al. · British Journal of Haematology · 2005 · 58 citations · Full text

Life Sciences, Biochemistry, Immunology +17

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 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17