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Author Title [ Type(Asc)] Year
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Journal Article
Guedes, L. C., Chan, R. B., Gomes, M. A., Conceição, V. A., et al. (2017). Serum lipid alterations in GBA-associated Parkinson's disease. Parkinsonism and Related Disorders, 44, 58 - 65.
Chaves, J., Beirão, I., Balreira, A., Gaspar, P., et al. (2011). Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings. Seizure, 20(9), 738 - 740.
Balreira, A., Gaspar, P., Caiola, D., Chaves, J., et al. (2008). A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Human Molecular Genetics, 17(14), 2238 - 2243.
Azevedo, O., Gago, M., Miltenberger-Miltenyi, G., Gaspar, P., et al. (2017). Mild left ventricular hypertrophy unravels a novel nonsense mutation of the GLA gene associated with the classical phenotype of fabry disease. Cardiology (Switzerland), 137(2), 67 - 73.
Ferraz, M. J., Marques, A. R. A., Gaspar, P., Mirzaian, M., et al. (2016). Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders. Molecular Genetics and Metabolism, 117(2), 186 - 193.
Rothaug, M., Zunke, F., Mazzulli, J. R., Schweizer, M., et al. (2014). LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance. Proceedings of the National Academy of Sciences of the United States of America, 111(43), 15573 - 15578.
Azevedo, O., Gaspar, P., Sá Miranda, C., Cunha, D., et al. (2011). Left ventricular noncompaction in a patient with fabry disease: Overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?. Cardiology, 119(3), 155 - 159.
Azevedo, O., Gaspar, P., Sá Miranda, C., Cunha, D., et al. (2011). Left ventricular noncompaction in a patient with Fabry disease: An unresolved challenge. Cardiology, 120(2), 97 - 99.
Gaspar, P., Herrera, J., Rodrigues, D., Cerezo, S., et al. (2010). Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Medical Genetics, 11(1).
Kramer, G., Wegdam, W., Donker-Koopman, W., Ottenhoff, R., et al. (2016). Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio, 6(9), 902 - 913.

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