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Forma adulta da doença de Pompe em Portugal

Caseiro,Carla; Laranjeira,Francisco; Silva,Elisabete; Ribeiro,Helena; Ferreira,Célia; Pinto,Fernanda; Ribeiro,Isaura; Sousa,Domingos; Rocha,Sónia

Date: 2015   |   Origin: SciELO Portugal
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Clinical, biochemical and molecular studies: stepwise to achieve diagnosis of f...

Ribeiro,Isaura; Rocha,Sónia; Ferreira,Célia; Pinto,Eugénia; Silva,Elisabete; Pinto,Fernanda; Ribeiro,Helena; Sousa,Domingos; Pacheco,Sara

Date: 2014   |   Origin: SciELO Portugal
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Hunter syndrome, the most prevalent mucopolysaccharidosis in portugal

Rocha,Sónia; Caseiro,Carla; Ribeiro,Isaura; Pinto,Eugénia; Ferreira,Célia; Ribeiro,Helena; Silva,Elisabete; Pinto,Fernanda; Pacheco,Sara; Sousa,Domingos

Date: 2014   |   Origin: SciELO Portugal
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A adrenoleucodistrofia ligada ao cromossoma X em portugal

Laranjeira,Francisco; Quelhas,Dulce; Pinto,Eugénia; Ribeiro,Helena; Ribeiro,Isaura; Pacheco,Sara; Lacerda,Lúcia

Date: 2014   |   Origin: SciELO Portugal
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