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	1.	Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. [electronic resource] by Poeppel, Peter Habetha, Matthias Marcão, Ana Büssow, Heinrich Berna, Linda Gieselmann, Volkmar Producer: 20050414 In: The FEBS journal vol. 272 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. [electronic resource] by Marcão, Ana Azevedo, Jorge E Gieselmann, Volkmar Sá Miranda, M C Producer: 20030731 In: Biochemical and biophysical research communications vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations. [electronic resource] by Marcão, Ana Simonis, Heidi Schestag, Frank Sá Miranda, M Clara Gieselmann, Volkmar Producer: 20030430 In: American journal of medical genetics. Part A vol. 116A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. [electronic resource] by Fonseca, Helena Azevedo, Luisa Serrano, Catarina Sousa, Carmen Marcão, Ana Vilarinho, Laura Producer: 20170125 In: Gene vol. 594 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis. [electronic resource] by Marcão, Ana Pinto, Eugénia Rocha, Sónia Sá Miranda, M C Ferreira, Luís Amaral, Olga Producer: 20040601 In: Molecular genetics and metabolism vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Four years of expanded newborn screening in Portugal with tandem mass spectrometry. [electronic resource] by Vilarinho, Laura Rocha, Hugo Sousa, Carmen Marcão, Ana Fonseca, Helena Bogas, Mário Osório, Rui Vaz Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. [electronic resource] by Marcão, Ana Couce, María L Nogueira, Célia Fonseca, Helena Ferreira, Filipa Fraga, José M Bóveda, M Dolores Vilarinho, Laura Producer: 20150327 In: JIMD reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. [electronic resource] by Marcão, Ana M Wiest, Roland Schindler, Kaspar Wiesmann, Ulrich Weis, Joachim Schroth, Gerhard Miranda, Maria Clara S Sturzenegger, Matthias Gieselmann, Volkmar Producer: 20050401 In: Archives of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Outcome of three cases of untreated maternal glutaric aciduria type I. [electronic resource] by Garcia, Paula Martins, Esmeralda Diogo, Luísa Rocha, Hugo Marcão, Ana Gaspar, Eurico Almeida, Margarida Vaz, Catarina Soares, Isabel Barbot, Clara Vilarinho, Laura Producer: 20080821 In: European journal of pediatrics vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Prevalence of lysosomal storage diseases in Portugal. [electronic resource] by Pinto, Rui Caseiro, Carla Lemos, Manuela Lopes, Lurdes Fontes, Augusta Ribeiro, Helena Pinto, Eugénia Silva, Elisabete Rocha, Sónia Marcão, Ana Ribeiro, Isaura Lacerda, Lúcia Ribeiro, Gil Amaral, Olga Sá Miranda, M C Producer: 20040909 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. [electronic resource] by Lugowska, Agnieszka Amaral, Olga Berger, Johannes Berna, Linda Bosshard, Nils U Chabas, Amparo Fensom, Anthony Gieselmann, Volkmar Gorovenko, Natalia G Lissens, Willy Mansson, Jan-Eric Marcao, Ana Michelakakis, Helen Bernheimer, Hanno Ol'khovych, Natalia V Regis, Stefano Sinke, Richard Tylki-Szymanska, Anna Czartoryska, Barbara Producer: 20051209 In: Molecular genetics and metabolism vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. [electronic resource] by Lobitz, Stephan Telfer, Paul Cela, Elena Allaf, Bichr Angastiniotis, Michael Backman Johansson, Carolina Badens, Catherine Bento, Celeste Bouva, Marelle J Canatan, Duran Charlton, Matthew Coppinger, Cathy Daniel, Yvonne de Montalembert, Marianne Ducoroy, Patrick Dulin, Elena Fingerhut, Ralph Frömmel, Claudia García-Morin, Marina Gulbis, Béatrice Holtkamp, Ute Inusa, Baba James, John Kleanthous, Marina Klein, Jeannette Kunz, Joachim B Langabeer, Lisa Lapouméroulie, Claudine Marcao, Ana Marín Soria, José L McMahon, Corrina Ohene-Frempong, Kwaku Périni, Jean-Marc Piel, Frédéric B Russo, Giovanna Sainati, Laura Schmugge, Markus Streetly, Allison Tshilolo, Leon Turner, Charles Venturelli, Donatella Vilarinho, Laura Yahyaoui, Rachel Elion, Jacques Colombatti, Raffaella Producer: 20190715 In: British journal of haematology vol. 183 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)