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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: hart a, hart c. 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
Management and investigation of neonatal encephalopathy: 2017 update.
Martinello K, Hart AR, Yap S, Mitra S, Robertson NJ. Martinello K, et al. Arch Dis Child Fetal Neonatal Ed. 2017 Jul;102(4):F346-F358. doi: 10.1136/archdischild-2015-309639. Epub 2017 Apr 6. Arch Dis Child Fetal Neonatal Ed. 2017. PMID: 28389438 Free PMC article.
MRI in the diagnosis of fetal developmental brain abnormalities: the MERIDIAN diagnostic accuracy study.
Griffiths PD, Bradburn M, Campbell MJ, Cooper CL, Embleton N, Graham R, Hart AR, Jarvis D, Kilby MD, Lie M, Mason G, Mandefield L, Mooney C, Pennington R, Robson SC, Wailoo A. Griffiths PD, et al. Among authors: hart ar. Health Technol Assess. 2019 Sep;23(49):1-144. doi: 10.3310/hta23490. Health Technol Assess. 2019. PMID: 31538569 Free PMC article. Clinical Trial.
2,806 results