To protect this child from the same genetic disease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic ...
Living cells contain a world of complex parts, which are constantly in motion. Many functions of these parts are still not fully understood, but likely harbor answers to many of our questions about ...
A retrospective analysis was conducted on hospitalized children who underwent G6PD screening at the Guangzhou Women and Children’s Medical Center from January 2019 to March 2024. Among 36,619 children ...
In certain groups of men, glucose-6-phosphate dehydrogenase (G6PD) deficiency was linked with an increased likelihood of severe COVID-19, a Veterans Affairs cohort study found. In Black men under 65, ...
Scientists at the Francis Crick Institute have found a new treatment target for CDKL5 deficiency disorder (CDD), one of the most common types of genetic epilepsy. CDD causes seizures and impaired ...
A Chiesi Farmaceutici drug for a rare enzyme deficiency is now approved by the FDA, making it the first U.S. treatment for a disorder that leads to a range of cognitive and muscle problems. The ...
Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino acids. This causes a buildup of toxic ...
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