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Eugénia Pinto

Instituto de Biologia Molecular e Celular

23

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349

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FABRY DISEASE IN PORTUGAL – INSIGHTS FROM THE MALE PATIENTS

2016 NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
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Forma adulta da doença de Pompe em Portugal

2015 Nascer e Crescer
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Doenças hereditárias do metabolismo: afinal não são assim tão raras no adulto...

2015 Nascer e Crescer
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A adrenoleucodistrofia ligada ao cromossoma X em portugal

2014 Nascer e Crescer
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SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place

2013
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Rastreio de doentes com patologia neuromuscular (ESTUDO ENDOMUS)

2013
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Genetic variation in a gene involved in glycosphingolipid lipid biosynthesis

2013
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Doenças lisossomais na etiologia da hidropsia fetal não imune

2013
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Mucopolysaccharidosis type III in Portugal

2013
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Molecular analyses of genes involved in mannose 6-phosphate independent trafficking

2013
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