The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease
✍ Scribed by Leistner-Segal, Sandra; Kubaski, Francyne; Vairo, Filippo; Brusius-Facchin, Ana Carolina; Dick, Jéssica; Dornelles, Thayane; Netto, Cristina Brinckmann; Giugliani, Roberto; Schwartz, Ida Vanessa Doederlein
- Book ID
- 122362103
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 62 KB
- Volume
- 108
- Category
- Article
- ISSN
- 1096-7192
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## Communicated by Mark Paalman Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. Type 2
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