Associated Papers
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
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Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S2.xlsx › Sheet2
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease.
Porto C et al.
Journal of Inherited Metabolic Disease, 2012
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
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Journal of Nephrology, 0
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