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Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0107-6
Abstract: Fabry disease is a glycosphingolipidosis caused by deficient activity of α-galactosidase A; it is one of a few diseases that are associated with priapism, an abnormal prolonged erection of the penis. The goal of this…
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Keywords:
priapism;
fabry disease;
fabry mice;
disease ... See more keywords
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Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100773
Abstract: Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians and pathologists. Although the affected…
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Keywords:
accumulation;
gb3;
hydroxychloroquine amiodarone;
fabry mice ... See more keywords
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Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0180601
Abstract: Fabry disease is an X-linked inherited lysosomal storage disorder with intracellular accumulation of globotriaosylceramide (Gb3) due to α-galactosidase A (α-Gal A) deficiency. Fabry patients frequently report of anxiety, depression, and impaired cognitive function. We characterized…
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Keywords:
fabry disease;
fabry mice;
affective cognitive;
mice ... See more keywords