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DeBerardinis Lab at UT Southwestern Medical Center
rjdlab.bsky.social
did:plc:jco3skohm5obtzrgtgjczwzv
2/L2HGDH deficiency is a rare, autosomal recessive inborn error of metabolism (IEM) characterized by severe and progressive neurodevelopmental disability, seizures, and (unique among IEMs) an elevated risk of brain tumors.
2025-04-20T20:40:38.478Z