@article {6459,
	title = {Mild left ventricular hypertrophy unravels a novel nonsense mutation of the GLA gene associated with the classical phenotype of fabry disease},
	journal = {Cardiology (Switzerland)},
	volume = {137},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {67 - 73},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85011928362\&doi=10.1159\%2f000455117\&partnerID=40\&md5=3268d686f375ca77a212116e406ff17e},
	author = {Azevedo, O. and Gago, M. and Miltenberger-Miltenyi, G. and Gaspar, P. and Sousa, N. and Cunha, D.}
}
@article {6367,
	title = {Serum lipid alterations in GBA-associated Parkinson{\textquoteright}s disease},
	journal = {Parkinsonism and Related Disorders},
	volume = {44},
	year = {2017},
	note = {Export Date: 19 March 2018},
	month = {2017},
	pages = {58 - 65},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85028846284\&doi=10.1016\%2fj.parkreldis.2017.08.026\&partnerID=40\&md5=bccbee0bc723e3a48e72d0fcbc5423bf},
	author = {Guedes, L.C. and Chan, R.B. and Gomes, M.A. and Concei{\c c}{\~a}o, V.A. and Machado, R.B. and Soares, T. and Xu, Y. and Gaspar, P. and Carri{\c c}o, J.A. and Alcalay, R.N. and Ferreira, J.J. and Outeiro, T.F. and Miltenberger-Miltenyi, G.}
}
@article {6644,
	title = {Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models},
	journal = {FEBS Open Bio},
	volume = {6},
	year = {2016},
	note = {Cited By :6Export Date: 19 March 2018},
	month = {2016},
	pages = {902 - 913},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84979742324\&doi=10.1002\%2f2211-5463.12078\&partnerID=40\&md5=3dee878500d99233d26d54398fc30b0d},
	author = {Kramer, G. and Wegdam, W. and Donker-Koopman, W. and Ottenhoff, R. and Gaspar, P. and Verhoek, M. and Nelson, J. and Gabriel, T. and Kallemeijn, W. and Boot, R.G. and Laman, J.D. and Vissers, J.P.C. and Cox, T. and Pavlova, E. and Moran, M.T. and Aerts, J.M. and van Eijk, M.}
}
@article {6755,
	title = {Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders},
	journal = {Molecular Genetics and Metabolism},
	volume = {117},
	year = {2016},
	note = {Cited By :11Export Date: 19 March 2018},
	month = {2016},
	pages = {186 - 193},
	url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84957838562\&doi=10.1016\%2fj.ymgme.2015.12.006\&partnerID=40\&md5=dda2c1af111705733da1f101394c6bd0},
	author = {Ferraz, M.J. and Marques, A.R.A. and Gaspar, P. and Mirzaian, M. and van Roomen, C. and Ottenhoff, R. and Alfonso, P. and Ir{\'u}n, P. and Giraldo, P. and Wisse, P. and S{\'a} Miranda, C. and Overkleeft, H.S. and Aerts, J.M.}
}
@article {5032,
	title = {LIMP-2 expression is critical for {\^I}{\texttwosuperior}-glucocerebrosidase activity and {\^I}{\textpm}-synuclein clearance},
	journal = {Proceedings of the National Academy of Sciences of the United States of America},
	volume = {111},
	year = {2014},
	month = {2014},
	pages = {15573 - 15578},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-84908282747\&partnerID=40\&md5=5b61bbc27dde899047c810b68e4c1abc},
	author = {Rothaug, M. and Zunke, F. and Mazzulli, J.R. and Schweizer, M. and Altmeppen, H. and L{\~A}{\textonequarter}llmann-Rauche, R. and Kallemeijn, W.W. and Gaspar, P. and Aerts, J.M. and Glatzel, M. and Saftig, P. and Krainc, D. and Schwake, M. and Blanz, J.}
}
@article {3025,
	title = {Left ventricular noncompaction in a patient with Fabry disease: An unresolved challenge},
	journal = {Cardiology},
	volume = {120},
	year = {2011},
	note = {Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {97 - 99},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-82955219490\&partnerID=40\&md5=c57179b062f77257c4304a3ba1ce9e72},
	author = {Azevedo, O. and Gaspar, P. and S{\'a} Miranda, C. and Cunha, D. and Medeiros, R. and Louren{\c c}o, A.}
}
@article {3066,
	title = {Left ventricular noncompaction in a patient with fabry disease: Overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?},
	journal = {Cardiology},
	volume = {119},
	year = {2011},
	note = {Cited By (since 1996): 2Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {155 - 159},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-80054763496\&partnerID=40\&md5=913bbd8b72244787c4e809f6ece20d13},
	author = {Azevedo, O. and Gaspar, P. and S{\'a} Miranda, C. and Cunha, D. and Medeiros, R. and Louren{\c c}o, A.}
}
@article {3044,
	title = {Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings},
	journal = {Seizure},
	volume = {20},
	year = {2011},
	note = {Cited By (since 1996): 1Export Date: 18 March 2013Source: Scopus},
	month = {2011///},
	pages = {738 - 740},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-80053570634\&partnerID=40\&md5=11b483d5076d06ee4313b1009f72607c},
	author = {Chaves, J. and Beir{\~a}o, I. and Balreira, A. and Gaspar, P. and Caiola, D. and S{\'a}-Miranda, M.C. and Lima, J.L.}
}
@article {3359,
	title = {Frequency of Fabry disease in male and female haemodialysis patients in Spain},
	journal = {BMC Medical Genetics},
	volume = {11},
	year = {2010},
	note = {Cited By (since 1996): 8Export Date: 18 March 2013Source: ScopusArt. No.: 19},
	month = {2010///},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-77949891815\&partnerID=40\&md5=5a056d681d2b6b3e7907a96a60637e00},
	author = {Gaspar, P. and Herrera, J. and Rodrigues, D. and Cerezo, S. and Delgado, R. and Andrade, C.F. and Forascepi, R. and Macias, J. and del Pino, M.D. and Prados, M.D. and de Alegria, P.R. and Torres, G. and Vidau, P. and S{\'a}-Miranda, M.C.}
}
@article {3670,
	title = {A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome},
	journal = {Human Molecular Genetics},
	volume = {17},
	year = {2008},
	note = {Cited By (since 1996): 32Export Date: 18 March 2013Source: Scopus},
	month = {2008///},
	pages = {2238 - 2243},
	url = {http://www.scopus.com/inward/record.url?eid=2-s2.0-46249129691\&partnerID=40\&md5=e93af0c3d5f18d15e8eb3e708a416cd5},
	author = {Balreira, A. and Gaspar, P. and Caiola, D. and Chaves, J. and Beir{\~a}o, I. and Lima, J.L. and Azevedo, J.E. and Miranda, M.C.S.}
}
