Lurdes Lopes

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

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: Identification of two novel mutations and characterization of four different partial gene conversions

Ana Friães, Ana Toste Rêgo, José Maria Aragüés et al. · Molecular Genetics and Metabolism · 2006 · 63 citations

Adrenal Gland, Mendelian Disorder, Congenital Adrenal Hyperplasia +9

Molecular analysis of the <i>GNPTAB </i>and <i>GNPTG </i>genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations

Marisa Encarnação, Lúcia Lacerda, Romain Da Costa et al. · Clinical Genetics · 2009 · 53 citations

Immunodeficiencies, Genetics, Glycobiology +23

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population

Carla Andreia Teixeira, Ant�nio Guimar�es, Carlos Bessa et al. · Journal of Neurology · 2003 · 41 citations

Neuro-oncology, Molecular Characterization, Pathology +5

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the <i>IDS</i> gene is prone to splicing mutations

Sandra Alves, M. Mangas, Maria João Prata et al. · Journal of Inherited Metabolic Disease · 2006 · 41 citations