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Mendes, Ana Raquel et al. Congenital disorders of glycosylation. Nascer e Crescer, Mar 2022, vol.31, no.1, p.38-54. ISSN 0872-0754

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Caseiro, Carla et al. Portuguese casuistic of mucopolysaccharidoses with cardiac manifestations. Nascer e Crescer, Dec 2016, vol.25, suppl.1, p.26-26. ISSN 0872-0754

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Soares, Ana Rita et al. Fabry disease in portugal: insights from the male patients. Nascer e Crescer, Dec 2016, vol.25, suppl.1, p.13-13. ISSN 0872-0754

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Ferreira, Inês et al. Síndrome dismórfico em recém-nascido com hipocolesterolemia. Nascer e Crescer, Set 2015, vol.24, no.3, p.119-123. ISSN 0872-0754

· abstract in portuguese | english · text in portuguese

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Rocha, Sónia et al. Doenças hereditárias do metabolismo: afinal não são assim tão raras no adulto.... Nascer e Crescer, Fev 2015, vol.24, suppl.1, p.29-29. ISSN 0872-0754

· text in portuguese

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Caseiro, Carla et al. Forma adulta da doença de Pompe em Portugal. Nascer e Crescer, Fev 2015, vol.24, suppl.1, p.27-27. ISSN 0872-0754

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Laranjeira, Francisco et al. A adrenoleucodistrofia ligada ao cromossoma X em portugal. Nascer e Crescer, Mar 2014, vol.23, suppl.1, p.23-23. ISSN 0872-0754

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Bandeira, Anabela et al. Genes, crianças e pediatras. Nascer e Crescer, Jun 2011, vol.20, no.2, p.101-103. ISSN 0872-0754

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Lopes, Altina et al. Cistinúria: Revisão da Literatura e Investigação das Suas Bases Genéticas em 4 Doentes. Nascer e Crescer, Dez 2010, vol.19, no.4, p.244-250. ISSN 0872-0754

· abstract in portuguese | english · text in portuguese

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