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

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

We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense &#946;-glucuronidase (<i>GUSB)</i> variations in exon 3: two novel, c.422A&gt;C and c.424C&gt;T, inherited from his mother, and the rather common...

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Bibliographic Details
Main Authors: Patricia Dubot, Frédérique Sabourdy, Geneviève Plat, Charlotte Jubert, Claude Cancès, Pierre Broué, Guy Touati, Thierry Levade
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:International Journal of Molecular Sciences
Subjects:
mucopolysaccharidosis
enzyme replacement therapy
transplantation
glycosaminoglycan
glucuronidase
sly syndrome
Online Access:https://www.mdpi.com/1422-0067/20/21/5345

Internet

https://www.mdpi.com/1422-0067/20/21/5345

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