https://pubmed.ncbi.nlm.nih.gov/25012580/
Approximately 1 in 400 neonates in Turkey is affected by inherited metabolic diseases. This high prevalence is at least in part due to consanguineous...
errors of metabolismnmrbasedscreeninginitial
https://pubmed.ncbi.nlm.nih.gov/30311390/
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic...
uniqueaspectssequencevariantinterpretation