Associated Papers
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Starosta RT et al.
Mitochondrion, 2024
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O et al.
Frontiers in Genetics, 2023
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