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Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: macpherson l. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.
Crompton D, Rehal PK, MacPherson L, Foster K, Lunt P, Hughes I, Brady AF, Pike MG, De Gressi S, Morgan NV, Hardy C, Smith M, MacDonald F, Maher ER, Kurian MA. Crompton D, et al. Among authors: macpherson l. Mol Genet Metab. 2010 Jun;100(2):207-12. doi: 10.1016/j.ymgme.2010.02.009. Epub 2010 Feb 16. Mol Genet Metab. 2010. PMID: 20226704 Free article.
Prospective multicentre evaluation and refinement of an analysis tool for magnetic resonance spectroscopy of childhood cerebellar tumours.
Manias KA, Harris LM, Davies NP, Natarajan K, MacPherson L, Foster K, Brundler MA, Hargrave DR, Payne GS, Leach MO, Morgan PS, Auer D, Jaspan T, Arvanitis TN, Grundy RG, Peet AC. Manias KA, et al. Among authors: macpherson l. Pediatr Radiol. 2018 Oct;48(11):1630-1641. doi: 10.1007/s00247-018-4182-0. Epub 2018 Jul 30. Pediatr Radiol. 2018. PMID: 30062569 Free PMC article.
Diagnostic accuracy and added value of qualitative radiological review of 1H-magnetic resonance spectroscopy in evaluation of childhood brain tumors.
Manias KA, Gill SK, MacPherson L, Oates A, Pinkey B, Davies P, Zarinabad N, Davies NP, Babourina-Brooks B, Wilson M, Peet AC. Manias KA, et al. Among authors: macpherson l. Neurooncol Pract. 2019 Dec;6(6):428-437. doi: 10.1093/nop/npz010. Epub 2019 May 9. Neurooncol Pract. 2019. PMID: 31832213 Free PMC article.
415 results