Associated Papers
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.
Soriano-Sexto A et al.
European Journal of Human Genetics : Ejhg, 2026
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ et al.
Clinical Genetics, 2023
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML et al.
Orphanet Journal of Rare Diseases, 2013
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
Couce ML et al.
Jimd Reports, 2011
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