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Author Title [ Type(Desc)] Year
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Journal Article
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.

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