Marisa Alexandra Rego da Encarnação
AuthID: R-004-TQA
31
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
32
TITLE: Common origin of the worldwide-spread mutation c.3503_3504delTC causing the lysosomal storage disease mucolipidosis type II
AUTHORS: Maria F Coutinho; Marisa Encarnação; Rui Gomes; Maria J Prata; Ruth Bargal; Mirella Filocammo; A. RaasRothschild; Barbara Tappino; Sandra Alves;
PUBLISHED: 2009, SOURCE: 17th ESGLD Workshop (European Study Group on Lysosomal Diseases), 10-13 September 2009
AUTHORS: Maria F Coutinho; Marisa Encarnação; Rui Gomes; Maria J Prata; Ruth Bargal; Mirella Filocammo; A. RaasRothschild; Barbara Tappino; Sandra Alves;
PUBLISHED: 2009, SOURCE: 17th ESGLD Workshop (European Study Group on Lysosomal Diseases), 10-13 September 2009
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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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