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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Wong LJ, et al. Among authors: leslie n. Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799. Hepatology. 2007. PMID: 17694548
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Free PMC article. Review. No abstract available.
Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Prada CE, et al. Mol Genet Metab. 2012 Aug;106(4):482-4. doi: 10.1016/j.ymgme.2012.06.005. Epub 2012 Jun 15. Mol Genet Metab. 2012. PMID: 22728053
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.
267 results