Marisa Alexandra Rego da Encarnação
AuthID: R-004-TQA
31
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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Handle32
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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