Publications by Wai-Shan Sammy Wong

Publications by authors named "Wai-Shan Sammy Wong"

Orphanet J Rare Dis

March 2023

The study aimed to assess the prevalence, clinical features, and genetic factors of mitochondrial diseases (MD) in Hong Kong by analyzing data from public hospitals from 1985 to 2020.
A total of 119 MD patients were reviewed, revealing a prevalence rate of 1.02 cases per 100,000 people, with neurological issues being the most common symptoms and a 37% mortality rate within the cohort.
The study highlights the predominance of pathogenic variants in the mitochondrial genome and serves as a foundational step towards creating a local MD registry for further research.

- Wai-Shan Sammy Wong's recent research focuses on mitochondrial diseases (MD) in Hong Kong, analyzing their prevalence and genetic characteristics over a long-term study spanning 35 years.
- The study retrospectively reviewed clinical and molecular data from confirmed MD patients, providing crucial insights into the phenotypic diversity and genetic landscape of these disorders in the region.
- Findings indicate a significant prevalence of mitochondrial diseases in Hong Kong, highlighting the need for enhanced diagnostic and management strategies tailored to the local population.