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Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.
Aitkenhead L, Krishna G, Ellerton C, Moinuddin M, Matcham J, Shiel L, Hossain S, Kiffin M, Foley J, Skeath R, Cleary M, Lachmann R, Murphy E. Aitkenhead L, et al. Among authors: lachmann r. J Inherit Metab Dis. 2021 Nov;44(6):1353-1368. doi: 10.1002/jimd.12413. Epub 2021 Aug 17. J Inherit Metab Dis. 2021. PMID: 34145605
A series of pregnancies in women with inherited metabolic disease.
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E. Langendonk JG, et al. J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15. J Inherit Metab Dis. 2012. PMID: 21918856
Movement disorders in adult patients with classical galactosemia.
Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS, Footitt EJ, Burke D, Edwards MJ, Lachmann RH, Murphy E. Rubio-Agusti I, et al. Mov Disord. 2013 Jun;28(6):804-10. doi: 10.1002/mds.25348. Epub 2013 Feb 11. Mov Disord. 2013. PMID: 23400815
Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping.
Sado DM, White SK, Piechnik SK, Banypersad SM, Treibel T, Captur G, Fontana M, Maestrini V, Flett AS, Robson MD, Lachmann RH, Murphy E, Mehta A, Hughes D, Neubauer S, Elliott PM, Moon JC. Sado DM, et al. Circ Cardiovasc Imaging. 2013 May 1;6(3):392-8. doi: 10.1161/CIRCIMAGING.112.000070. Epub 2013 Apr 5. Circ Cardiovasc Imaging. 2013. PMID: 23564562
226 results