Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families with SGSH and GALNS Deficiencies
This study expands the spectrum of MPS-associated variants in Pakistan. The findings underscore the importance of genomic diagnostics for enabling early detection, accurate classification, and genetic counseling in populations with high consanguinity.
Authors
- Hirotsugu Oda (ORCID: https://orcid.org/0000-0002-1411-5381)
- Muhammad Sajid Hussain (ORCID: https://orcid.org/0000-0002-1353-8809)
- Shahid Mahmood Baig (ORCID: https://orcid.org/0000-0002-0683-5872)
- Niklas Dahl (ORCID: https://orcid.org/0000-0002-8122-0800)
- Liza Eiman
- Shumaila Zulfiqar
- Farheen Nasir Awan
- Maria Asif
Institutions
- Uppsala University (SE)
- German Sport University Cologne (DE)
- Kinnaird College for Women University (PK)
- University of Cologne (DE)
- Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (DE)
- University Hospital Cologne (DE)
- Health Services Academy (PK)
- University of Lübeck (DE)
Publication Details
- Journal
- Genes
- Published
- 2026-03-31
- DOI
- https://doi.org/10.3390/genes17040401
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Forschungsgemeinschaft
- Fritz Thyssen Stiftung