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First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

Int J Mol Sci. 2019; 
Dubot P, Sabourdy F, Plat G, Jubert C, Cancès C, Broué P, Touati G, Levade T, .
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Gene Synthesis … sequences. The latter were purchased from GenScript (Leiden, The Netherlands). After 48 h of incubation, cells were washed with PBS and harvested; cell pellets were frozen at −80 °C until use. 4.5. Western Blot Analysis. After … Get A Quote

摘要

We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense β-glucuronidase (GUSB) variations in exon 3: two novel, c.422A>C and c.424C>T, inherited from his mother, and the rather common c.526C>T, inherited from his father. Expression of these variations in transfected HEK293T cells demonstrated that the double mutation c.422A>C;424C>T reduces β-glucuronidase enzyme activity. Enzyme replacement therapy (ERT), using UX003 (vestronidase alfa), was started at four months of age, followed by a hematopoietic stem cell allograft transplantation (HSCT) at 13 months of age. ERT was well tolerated and attenuated visceromegaly and skin infiltration... More

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