首页 正文

First Brazilian birth after Preimplantation Genetic Testing for Severe Methylmalonic Acidemia: preventing sudden infant death

{{output}}
Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MMUT gene, often associated with severe neonatal manifestations and sudden unexpected death in infancy (SUDI). Preimplantation Genetic Testing fo... ...