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Combined oxidative phosphorylation deficiency (COXPD) is a rare, multisystem disorder that exhibits significant clinical and genetic heterogeneity. Through genome sequencing, we identified biallelic variants in MRPL49 in individuals from five unrelated families. These individuals presented a spectru...
ORGANISM(S): Homo sapiens (Human) 
2025-03-04 | PXD056347 | Pride
Saline-alkaline stress, particularly sodium bicarbonate-induced alkaline stress, can cause tissue damage and oxidative stress in aquatic animals, thereby inhibiting their growth and even threatening their survival. This has become a key factor limiting the utilization of saline-alkaline water resour...
2026-04-18 | MTBLS14311 | MetaboLights
Genomics
Adult-onset combined oxidative phosphorylation deficiency type14 manifests as epileptic status: a new phenotype and literature review
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