β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2012_145
Reference20 articles.
1. Bagshaw RD, Zhang S, Hinek A et al (2002) Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. Biochim Biophys Acta 1588(3):247–253
2. Brunetti-Pierri N, Scaglia F (2008) GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94(4):391–396
3. Caciotti A, Donati MA, Bardelli T et al (2005) Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol 167(6):1689–1698
4. Caciotti A, Garman SC, Rivera-Colón Y et al (2011) GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta 1812(7):782–790
5. Callahan JW (1999) Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim Biophys Acta 1455(2–3):85–103
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