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	1.	Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. [electronic resource] by João Silva, Maria Pinheiro, Ana Eusébio, Filomena Gaspar, Ana Tavares de Almeida, Isabel Rivera, Isabel Producer: 20090428 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Incidence of maple syrup urine disease in Portugal. [electronic resource] by Quental, Sofia Vilarinho, Laura Martins, Esmeralda Teles, Elisa Leão Rodrigues, Esmeralda Diogo, Luísa Garcia, Paula Eusébio, Filomena Gaspar, Ana Sequeira, Sílvia Amorim, António Prata, Maria João Producer: 20101019 In: Molecular genetics and metabolism vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. [electronic resource] by Quental, Sofia Macedo-Ribeiro, Sandra Matos, Raquel Vilarinho, Laura Martins, Esmeralda Teles, Elisa Leão Rodrigues, Esmeralda Diogo, Luísa Garcia, Paula Eusébio, Filomena Gaspar, Ana Sequeira, Sílvia Furtado, Fátima Lança, Isabel Amorim, António Prata, Maria João Producer: 20080730 In: Molecular genetics and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)