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 β-glucuronidase (<i>GUSB)</i> variations in exon 3: two novel, c.422A>C and c.424C>T, inherited from his mother, and the rather common...
Main Authors: | Patricia Dubot, Frédérique Sabourdy, Geneviève Plat, Charlotte Jubert, Claude Cancès, Pierre Broué, Guy Touati, Thierry Levade |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-10-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/20/21/5345 |
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