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Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Dis...

Costa,Rita Quelhas da; Laranjeira,Francisco; Ribeiro,Isaura Duarte; Santos,António Filipe; Nery,Filipe

Abstract Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, compli...

Date: 2022   |   Origin: SciELO Portugal
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A perspetiva do laboratório

Laranjeira,Francisco

Date: 2016   |   Origin: SciELO Portugal
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Fabry disease in portugal: insights from the male patients

Soares,Ana Rita; Laranjeira,Francisco; Caseiro,Carla; Ribeiro,Isaura; Silva,Elisabete; Pinto,Eugénia; Ferreira,Célia; Rocha,Sónia; Fortuna,Ana

Date: 2016   |   Origin: SciELO Portugal
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Portuguese casuistic of mucopolysaccharidoses with cardiac manifestations

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

Date: 2016   |   Origin: SciELO Portugal
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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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Doenças hereditárias do metabolismo: afinal não são assim tão raras no adulto...

Rocha,Sónia; Laranjeira,Francisco; Caseiro,Carla; Ribeiro,Isaura; Pinto,Eugénia; Ferreira,Célia; Ribeiro,Helena; Quelhas,Dulce; Lacerda,Lúcia

Date: 2015   |   Origin: SciELO Portugal
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XX, doente ou portadora?

Laranjeira,Francisco

Date: 2014   |   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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