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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Schwahn BC, Hart C, Smith LA, Hart A, Fairbanks L, Arenas-Hernandez M, Turner C, Horman A, Rust S, Santamaria-Araujo JA, Mayr SJ, Schwarz G, Sharrard M. Schwahn BC, et al. Among authors: smith la. Mol Genet Metab. 2024 Dec;143(4):108598. doi: 10.1016/j.ymgme.2024.108598. Epub 2024 Oct 29. Mol Genet Metab. 2024. PMID: 39488078
747 results