51
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene.
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Maria J Prata; Helena Ribeiro; Lurdes Lopes; Célia Ferreira; Sandra Alves;
PUBLISHED: 2008, SOURCE: Clinical Genetics
INDEXED IN: Handle
52
TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula
AUTHORS: Mariana Mangas; Célia Nogueira; Maria J Prata; Lúcia Lacerda; M.J. Coll; Gabriela Soares; Gil Ribeiro; Olga Amaral; Célia Ferreira; C. Alves; Maria F Coutinho; Sandra Alves;
PUBLISHED: 2008, SOURCE: Clinical Genetics
INDEXED IN: Handle
53
TITLE: Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy
AUTHORS: Jose Pedro L Nunes ; Ovidio Costa ; Maria do Sameiro Faria; Pedro Bernardo Almeida; Lucia Lacerda;
PUBLISHED: 2007, SOURCE: NATURE CLINICAL PRACTICE CARDIOVASCULAR MEDICINE, VOLUME: 4, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
54
TITLE: Molecular Characterization of the three Portuguese patients with Mucopolysaccharidosis IIIC
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Helena Ribeiro; Célia Ferreira; Lurdes Lopes; Maria J Prata; Sandra Alves;
PUBLISHED: 2007, SOURCE: V Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas, 22-24 November 2007
INDEXED IN: Handle
55
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations  Full Text
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 31
IN MY: ORCID
56
TITLE: Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC-class II: monocytes from Gaucher disease patients as a model  Full Text
AUTHORS: Balreira, A; Lacerda, L; Miranda, CS ; Arosa, FA ;
PUBLISHED: 2005, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 129, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 45
IN MY: ORCID
57
TITLE: Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin  Full Text
AUTHORS: Amaral, O; Lacerda, L; Marcao, A; Pinto, E; Tamagnini, G; Miranda, MCS ;
PUBLISHED: 1999, SOURCE: CLINICAL GENETICS, VOLUME: 56, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
58
TITLE: T cell numbers relate to bone involvement in Gaucher disease  Full Text
AUTHORS: Lacerda, L; Arosa, FA ; Lacerda, R; Cabeda, JM ; Porto, G ; Amaral, O; Fortuna, A; Pinto, R; Oliveira, P ; McLaren, CE; Miranda, CS; de Sousa, M ;
PUBLISHED: 1999, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 25, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 40
IN MY: ORCID
60
TITLE: Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
AUTHORS: Amaral, O; Pinto, E; Fortuna, M; Lacerda, L; Miranda, MCS ;
PUBLISHED: 1996, SOURCE: HUMAN MUTATION, VOLUME: 8, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 6 of 8. Total results: 72.