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Molybdenum cofactor biology, evolution and deficiency.
Mayr SJ, Mendel RR, Schwarz G. Mayr SJ, et al. Biochim Biophys Acta Mol Cell Res. 2021 Jan;1868(1):118883. doi: 10.1016/j.bbamcr.2020.118883. Epub 2020 Oct 2. Biochim Biophys Acta Mol Cell Res. 2021. PMID: 33017596 Free article. Review.
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: mayr sj. 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