Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
This study provides the first summary of genotype-phenotype correlations for MPS II in individuals from Kenya. These findings will allow the development of guidelines to identify individuals who may benefit from early evaluation, especially in those families where there is a risk of MPS II.
Authors
- Dalton C. Wamalwa (ORCID: https://orcid.org/0000-0002-5510-462X)
- Anne Njoroge (ORCID: https://orcid.org/0000-0001-8158-2847)
- Beatrice Mpora Odongkara (ORCID: https://orcid.org/0000-0002-6283-9114)
- Caroline Njeru (ORCID: https://orcid.org/0000-0001-5878-0650)
- Ruth W. Nduati (ORCID: https://orcid.org/0000-0002-7311-9892)
- Lucy Mungai (ORCID: https://orcid.org/0000-0002-6001-491X)
- Danny E. Miller (ORCID: https://orcid.org/0000-0001-6096-8601)
- Syokau Ilovi (ORCID: https://orcid.org/0000-0002-2176-8006)
- Michuki Maina (ORCID: https://orcid.org/0000-0001-6874-8929)
Institutions
- University of Nairobi (KE)
- Seattle Children's Hospital (US)
- Gulu University (UG)
- University of Washington (US)
- Aga Khan University Hospital Nairobi (KE)
- Kenya Medical Research Institute (KE)
- Aga Khan University Nairobi (KE)
- Seattle Children's Hospital (US)
- Brotman Baty Institute (US)
- University of Washington Applied Physics Laboratory (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s13023-025-03881-3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00