Ontology highlight
ABSTRACT:
SUBMITTER: Orii K
PROVIDER: S-EPMC7168249 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Orii Kenji K Suzuki Yasuyuki Y Tomatsu Shunji S Orii Tadao T Fukao Toshiyuki T
Diagnostics (Basel, Switzerland) 20200216 2
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al. reported the first patient with MPS VII, who underwent HSCT at 12 years of age. Here, we report the results of a 22-year follow-up of that patient post-HSCT, who harbored the p.Ala619Val mutation associated with an attenuated phenotype. The purpose of this stud ...[more]