Analysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry
Increased birth weight, delayed diagnosis and the start of ERT, and development of neuronopathic form with impossible walking after 12 years were the main predictors of the fatal outcome.
Authors
- Ekaterina Zakharova (ORCID: https://orcid.org/0000-0002-5020-1180)
- Dmitry O. Ivanov (ORCID: https://orcid.org/0000-0002-0060-4168)
- Natalia V. Buchinskaya (ORCID: https://orcid.org/0000-0002-2335-3023)
- Sergey I. Kutsev (ORCID: https://orcid.org/0000-0002-3133-8018)
- Nato D. Vashakmadze (ORCID: https://orcid.org/0000-0001-8320-2027)
- Anastasia O. Vechkasova (ORCID: https://orcid.org/0009-0004-8775-9630)
- Mikhail Kostik
Institutions
- Pirogov Russian National Research Medical University (RU)
- Research Centre for Medical Genetics (RU)
- Scientific Center of Children's Health (RU)
Publication Details
- Journal
- World Journal of Clinical Pediatrics
- Published
- 2025-06-16
- DOI
- https://doi.org/10.5409/wjcp.v14.i3.104689
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00