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Article

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.

International journal of molecular sciences - 28 Oct 2019

Dubot Patricia, Sabourdy Frédérique, Plat Geneviève, Jubert Charlotte, Cancès Claude, Broué Pierre, Touati Guy, Levade Thierry

Abstract excerpt

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...

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Identifiers

PMID: 31661765
DOI: 10.3390/ijms20215345
PMCID: PMC6861985

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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