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Psychological aspects of patients with Fabry disease

✍ Scribed by T. Wilson Crosbie; Wendy Packman; S. Packman


Publisher
Springer
Year
2009
Tongue
English
Weight
154 KB
Volume
32
Category
Article
ISSN
0141-8955

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Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme Ξ± Ξ±galactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In th