Journal of inherited metabolic disease
Sep 8, 2020
The natural history of most rare diseases is incompletely understood and usually relies on studies with low level of evidence. Consistent with the goals for future research of rare disease research set by the International Rare Diseases Research Cons...
Journal of inherited metabolic disease
May 1, 2025
Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre-processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuri...
Journal of inherited metabolic disease
Jan 1, 2025
Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is nee...