Lyso-gb3 indicates that the alpha-galactosidase a mutation D313Y is not clinically relevant for fabry disease

JIMD Reports

Volumn 7, Issue , 2013, Pages 99-102

  Niemann, Markus ^a,b   Rolfs, Arndt ^c   Giese, Anne ^c   Mascher, Hermann ^d   Breunig, Frank ^a,b   Ertl, Georg ^a,b   Wanner, Christoph ^a,b   Weidemann, Frank ^a,b,e  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^c UNIVERSITY OF ROSTOCK   (Germany)

^d Pharm analyt Lab   (Austria)

^e Medizinische und Poliklinik II   (Germany)

Author keywords

D313Y Mutation; Enzyme replacement therapy; Fabry disease; Fabry patient; Lysosomal storage disorder

Indexed keywords

EID: 84885875801     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_154     Document Type: Chapter

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