Congenital sucrase-isomaltase deficiency without sucrose intolerance

This study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…

This study is a registry that will review medical records of 1,000 patients treated for benign or malignant gastrointestinal diseases between 2005 and 2030. Researchers will look at survival, symptoms like heartburn and swallowing trouble, and quality of life. The goal is to lear…