Lucia Maria Wanzeller Guedes de Lacerda
AuthID: R-00H-25A
41
TITLE: Molecular Characterization of the Portuguese Patients with defects in the GLB1 gene: evidences of a strong genotype-phenotype correlation.
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Helena Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2010, SOURCE: EMBL Symposium “Human Variation: Cause and Consequence”, Human Variation: Cause and Consequence, 20 3 June 2010
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Helena Ribeiro; Maria J Prata; Sandra Alves;
PUBLISHED: 2010, SOURCE: EMBL Symposium “Human Variation: Cause and Consequence”, Human Variation: Cause and Consequence, 20 3 June 2010
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Handle
Handle42
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations Full Text
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
43
TITLE: Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking
AUTHORS: Maria F Coutinho; Marisa Encarnação; Rui Gomes; Maria J Prata; Lúcia Lacerda; Ruth Bargal; Mirella Filocammo; Raas Rothschild; Barbara Tappino; Cathrine Laprise; D. Sirois Gagnon; Roberto Costa; Helena Ribeiro; Lurdes Lopes; Sandra Alves;
PUBLISHED: 2009, SOURCE: 13ª Reunião da Sociedade Portuguesa de Genética Humana, 19-21 Novembro 2009
AUTHORS: Maria F Coutinho; Marisa Encarnação; Rui Gomes; Maria J Prata; Lúcia Lacerda; Ruth Bargal; Mirella Filocammo; Raas Rothschild; Barbara Tappino; Cathrine Laprise; D. Sirois Gagnon; Roberto Costa; Helena Ribeiro; Lurdes Lopes; Sandra Alves;
PUBLISHED: 2009, SOURCE: 13ª Reunião da Sociedade Portuguesa de Genética Humana, 19-21 Novembro 2009
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Handle44
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
AUTHORS: Marisa Encarnação; Lúcia Lacerda; Roberto Costa; Maria J Prata; Maria F Coutinho; Helena Ribeiro; Lurdes Lopes; M. Pineda; J. Ignatius; H. Galvez; A. Mustonen; P. Vieira; Margarida R Lima; Sandra Alves;
PUBLISHED: 2009, SOURCE: Clinical Genetics
AUTHORS: Marisa Encarnação; Lúcia Lacerda; Roberto Costa; Maria J Prata; Maria F Coutinho; Helena Ribeiro; Lurdes Lopes; M. Pineda; J. Ignatius; H. Galvez; A. Mustonen; P. Vieira; Margarida R Lima; Sandra Alves;
PUBLISHED: 2009, SOURCE: Clinical Genetics
INDEXED IN: Handle
Handle45
TITLE: Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and Galactosialidosis.
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Maria J Prata; Helena Ribeiro; Sandra Alves;
PUBLISHED: 2009, SOURCE: II Encontro de Jovens Investigadores da Universidade do Porto, 25-27 February 2009
AUTHORS: Maria F Coutinho; Lúcia Lacerda; Maria J Prata; Helena Ribeiro; Sandra Alves;
PUBLISHED: 2009, SOURCE: II Encontro de Jovens Investigadores da Universidade do Porto, 25-27 February 2009
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Handle46
TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
AUTHORS: Coutinho, MF; Lacerda, L; Prata, MJ ; Ribeiro, H; Lopes, L; Ferreira, C; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 74, ISSUE: 2
47
TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula Full Text
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
48
TITLE: Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting Full Text
AUTHORS: Winchester, B; Bali, D; Bodamer, OA; Caillaud, C; Christensen, E; Cooper, A; Cupler, E; Deschauer, M; Fumic, K; Jackson, M; Kishnani, P; Lacerda, L; Ledvinova, J; Lugowska, A; Lukacs, Z; Maire, I; Mandel, H; Mengel, E; Muller Felber, W; Piraud, M; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 3
AUTHORS: Winchester, B; Bali, D; Bodamer, OA; Caillaud, C; Christensen, E; Cooper, A; Cupler, E; Deschauer, M; Fumic, K; Jackson, M; Kishnani, P; Lacerda, L; Ledvinova, J; Lugowska, A; Lukacs, Z; Maire, I; Mandel, H; Mengel, E; Muller Felber, W; Piraud, M; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 3
49
TITLE: CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype Full Text
AUTHORS: Bessa, C; Teixeira, CA; Dias, A; Alves, M; Rocha, S; Lacerda, L; Loureiro, L; Guimaraes, A; Ribeiro, MG;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 1
AUTHORS: Bessa, C; Teixeira, CA; Dias, A; Alves, M; Rocha, S; Lacerda, L; Loureiro, L; Guimaraes, A; Ribeiro, MG;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 1
50
TITLE: Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population Full Text
AUTHORS: Lacerda, L; Amaral, O; Pinto, R; Oliveira, P ; Aerts, J; Sá C S Miranda;
PUBLISHED: 2008, SOURCE: Clinical Genetics, VOLUME: 45, ISSUE: 6
AUTHORS: Lacerda, L; Amaral, O; Pinto, R; Oliveira, P ; Aerts, J; Sá C S Miranda;
PUBLISHED: 2008, SOURCE: Clinical Genetics, VOLUME: 45, ISSUE: 6
