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Michele Basilicata, Giulia Marrone, Manuela Di Lauro, Eleonora Sargentini, Vincenza Paolino, Redan Hassan, Giuseppe D?Amato, Patrizio Bollero and Annalisa Noce
Gaucher disease (GD) is a lysosomal storage pathological condition, characterized by a genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene, located on the chromosome 1 (1q21), that induces the deficiency of the lysosomal e...
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Ashwin Roy, Mohamed Mansour, David Oxborough, Tarekegn Geberhiwot and Richard Steeds
Fabry disease (FD) is a rare X-linked lysosomal storage disorder manifesting as progressive multi-organ accumulation of sphingolipids due to deficiency in the enzyme a-Galactosidase A. Sphingolipid accumulation can take place in all cardiac cell types wh...
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Ilka Schneider, Stephan Zierz, Stephan Schulze, Karl-Stefan Delank, Kevin G. Laudner, Richard Brill and René Schwesig
Pompe disease is a neurological disease with significant impacts on gait and balance. Therefore, it is important to measure these characteristics in a functional, valid and reliable manner. This investigation used a cross-sectional study design utilizing...
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