cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant
Mol Genet Metab. 2024 Oct 29;143(4):108598. doi: 10.1016/j.ymgme.2024.108598. Online ahead of print. ABSTRACT We report the first, and so far, only index patient with neonatal …