A systematic review highlights the clinical spectrum and genotype-phenotype correlations of short-chain enoyl-CoA hydratase deficiency. The study identifies key survival predictors, enhancing understanding of this rare metabolic disorder.
short chain enoyl coa hydratase deficiency a systematic review of clinical spectrum genotype phenotype correlations and survival predictors
Original title: “Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.”