@article {4699,
	title = {Screening of high-risk Gaucher disease patients using dried blood spots techniques},
	journal = {Gene},
	volume = {523},
	year = {2013},
	note = {Export Date: 8 April 2014Source: Scopus},
	month = {2013},
	pages = {114 - 115},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84877825392\&partnerID=40\&md5=38fb9dd20bf97edae46b6b6bbb86cd76},
	author = {Vairo, F. and Netto, C. and Tirelli, K.M. and Siebert, M. and Burin, M. and Saraiva-Pereira, M.L. and Balreira, A. and S{\'a} Miranda, M.C. and Lukacs, Z. and Schwartz, I.V.D.}
}
@article {3592,
	title = {Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients},
	journal = {British Journal of Haematology},
	volume = {143},
	year = {2008},
	note = {Cited By (since 1996): 6Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {601 - 604},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-54849425572\&partnerID=40\&md5=cbb30790119a715531fe709fa8ae209e},
	author = {Balreira, A. and MacEdo, M.F. and Gir{\~a}o, C. and Rodrigues, L.G. and Oliveira, J.P. and S{\'a} Miranda, M.C. and Arosa, F.A.}
}
@article {3826,
	title = {Mutational analysis of 105 mucopolysaccharidosis type VI patients},
	journal = {Human Mutation},
	volume = {28},
	year = {2007},
	note = {Cited By (since 1996): 31Export Date: 18 March 2013Source: Scopus},
	month = {2007///},
	pages = {897 - 903},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-34547673433\&partnerID=40\&md5=a23ac7304a5def19685c11fa229c1879},
	author = {Karageorgos, L. and Brooks, D.A. and Pollard, A. and Melville, E.L. and Hein, L.K. and Clements, P.R. and Ketteridge, D. and Swiedler, S.J. and Beck, M. and Giugliani, R. and Harmatz, P. and Wraith, J.E. and Guffon, N. and Teles, E.L. and S{\'a} Miranda, M.C. and Hopwood, J.J.}
}
@article {4039,
	title = {Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil},
	journal = {Journal of Child Neurology},
	volume = {21},
	year = {2006},
	note = {Cited By (since 1996): 4Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {540 - 544},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33746076750\&partnerID=40\&md5=ee986bf348d22b5200c96bce0a582a82},
	author = {Rozenberg, R. and Kok, F. and Burin, M.G. and S{\'a} Miranda, M.C. and Vasques, C. and Henriques-Souza, A.M.M. and Giugliani, R. and Vainzof, M. and Pereira, L.V.}
}
@article {4030,
	title = {Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology},
	journal = {Biochimica et Biophysica Acta - Molecular Basis of Disease},
	volume = {1762},
	year = {2006},
	note = {Cited By (since 1996): 4Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {637 - 646},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33746853453\&partnerID=40\&md5=e047cc5d49810d016b54c8a796542f4d},
	author = {Teixeira, C.A.F. and Lin, S. and Mangas, M. and Quinta, R. and Bessa, C.J.P. and Ferreira, C. and S{\'a} Miranda, M.C. and Boustany, R.-M.N. and Ribeiro, M.G.}
}
@article {3987,
	title = {Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency},
	journal = {Molecular Genetics and Metabolism},
	volume = {89},
	year = {2006},
	note = {Cited By (since 1996): 16Export Date: 18 March 2013Source: Scopus},
	month = {2006///},
	pages = {245 - 253},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-33748972610\&partnerID=40\&md5=3b3d2e11a8eaafd9a1762a0f985c9062},
	author = {Bessa, C. and Teixeira, C.A.F. and Mangas, M. and Dias, A. and S{\'a} Miranda, M.C. and Guimar{\~a}es, A. and Ferreira, J.C. and Canas, N. and Cabral, P. and Ribeiro, M.G.}
}
@article {4146,
	title = {Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme},
	journal = {Journal of Biomedical Materials Research - Part A},
	volume = {74},
	year = {2005},
	note = {Cited By (since 1996): 13Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {545 - 552},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-24044465170\&partnerID=40\&md5=bbcee8568e0c0223975853a8177439c8},
	author = {Barrias, C.C. and Lamghari, M. and Granja, P.L. and S{\'a} Miranda, M.C. and Barbosa, M.A.}
}
@article {4193,
	title = {Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)},
	journal = {American Journal of Medical Genetics},
	volume = {134 A},
	year = {2005},
	note = {Cited By (since 1996): 41Export Date: 18 March 2013Source: Scopus},
	month = {2005///},
	pages = {144 - 150},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-20144386995\&partnerID=40\&md5=9c8cfc3e51a0cff4dbcd8a9b70a70aad},
	author = {Swiedler, S.J. and Beck, M. and Bajbouj, M. and Giugliani, R. and Schwartz, I. and Harmatz, P. and Wraith, J.E. and Roberts, J. and Ketteridge, D. and Hopwood, J.J. and Guffon, N. and S{\'a} Miranda, M.C. and Teles, E.L. and Berger, K.I. and Piscia-Nichols, C.}
}
@article {4252,
	title = {Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR},
	journal = {Blood Cells, Molecules, and Diseases},
	volume = {33},
	year = {2004},
	note = {Cited By (since 1996): 16Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {362 - 364},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-7444257407\&partnerID=40\&md5=24ccd486a5c48af421d25f8f855130c5},
	author = {Rodrigues, M.R. and S{\'a} Miranda, M.C. and Amaral, O.}
}
@article {4337,
	title = {Prevalence of lysosomal storage diseases in Portugal},
	journal = {European Journal of Human Genetics},
	volume = {12},
	year = {2004},
	note = {Cited By (since 1996): 88Export Date: 18 March 2013Source: Scopus},
	month = {2004///},
	pages = {87 - 92},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-10744233030\&partnerID=40\&md5=d722c5e45bc3fc15f8b4b660cad43f6d},
	author = {Pinto, R. and Caseiro, C. and Lemos, M. and Lopes, L. and Fontes, A. and Ribeiro, H. and Pinto, E. and Silva, E. and Rocha, S. and Marc{\~a}o, A. and Ribeiro, I. and Lacerda, L. and Ribeiro, G. and Amaral, O. and S{\'a} Miranda, M.C.}
}
