C. Sá Miranda

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

M. Schwake, M. van Eijk, Friederike Zunke, 2014, Journal of Lipid Research.

Left Ventricular Noncompaction in a Patient with Fabry Disease: Overdiagnosis, Morphological Manifestation of Fabry Disease or Two Unrelated Rare Conditions in the Same Patient?

Paulo Gaspar, O. Azevedo, Damião Cunha, 2011, Cardiology.

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

C. V. van Roomen, A. Marques, R. Ottenhoff, 2016, Molecular genetics and metabolism.

Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model.

M. Lamghari, C. Barrias, M. Barbosa, 2005, Blood cells, molecules & diseases.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

G. Gildengorin, R. Giugliani, J. E. Wraith, 2012, Journal of Inherited Metabolic Disease.

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

L. Gort, D. Grinberg, A. Chabás, 2012, Orphanet Journal of Rare Diseases.

T cell numbers relate to bone involvement in Gaucher disease.

A. Fortuna, O. Amaral, G. Porto, 1999, Blood cells, molecules & diseases.

Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders.

C. V. van Roomen, R. Ottenhoff, H. Overkleeft, 2016, Molecular genetics and metabolism.