Publications by authors named "Sioned Lloyd"
Mol Genet Metab Rep
September 2019
Article Synopsis
- Alpha-mannosidosis is a rare genetic disorder caused by a deficiency in alpha-mannosidase, leading to varied symptoms and progression among patients.
- A survey of nine patients in the UK revealed differences in mobility and overall health-related quality of life (HRQoL), with those less mobile reporting lower HRQoL, while treatments like hematopoietic stem cell transplantation and enzyme replacement therapy improved their well-being.
- The results highlight the emotional and mental strain on caregivers, emphasizing the need for early diagnosis and treatment to improve outcomes for both patients and their families.
