P070: Follow-up of very attenuated form of mucopolysaccharidosis type Ⅱ detected by newborn screening
ERT was initiated 5 months after birth. The parents requested discontinuing ERT at 11 months because his older sibling was also found to have the mild phenotype of MPSⅡ. Upon confirming the genotype of the asymptomatic maternal great-grandfather, the decision was made not to treat.
Authors
- Yuta Sudo (ORCID: https://orcid.org/0000-0002-9713-339X)
- Tetsushi Yoshikawa (ORCID: https://orcid.org/0000-0002-2847-7682)
- Yoko Nakajima (ORCID: https://orcid.org/0000-0002-6944-4131)
- Tetsuya Ito
- Yasuaki Yasuda
Institutions
- Fujita Health University (JP)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102914
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00