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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Bedoyan JK, et al. Among authors: jack rm. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2. Mol Genet Metab. 2017. PMID: 28202214 Free PMC article. Review.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Coughlin CR 2nd, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Coughlin CR 2nd, et al. Among authors: jack rm. Mol Genet Metab. 2015 Sep-Oct;116(1-2):35-43. doi: 10.1016/j.ymgme.2015.05.011. Epub 2015 May 23. Mol Genet Metab. 2015. PMID: 26026794 Review.
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. Tiranti V, et al. Among authors: jack rm. J Med Genet. 2006 Apr;43(4):340-6. doi: 10.1136/jmg.2005.036210. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183799 Free PMC article.
Ahomocysteinemia in molybdenum cofactor deficiency.
Graf WD, Oleinik OE, Jack RM, Weiss AH, Johnson JL. Graf WD, et al. Among authors: jack rm. Neurology. 1998 Sep;51(3):860-2. doi: 10.1212/wnl.51.3.860. Neurology. 1998. PMID: 9748040
83 results