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De novo mutations in POLG presenting with acute liver failure or encephalopathy.
Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJ. Lutz RE, et al. Among authors: dimmock d. J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):126-9. doi: 10.1097/MPG.0b013e31817d9cad. J Pediatr Gastroenterol Nutr. 2009. PMID: 19252446 No abstract available.
Citrin deficiency, a perplexing global disorder.
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Dimmock D, et al. Mol Genet Metab. 2009 Jan;96(1):44-9. doi: 10.1016/j.ymgme.2008.10.007. Epub 2008 Nov 25. Mol Genet Metab. 2009. PMID: 19036621
Solid organ transplantation in primary mitochondrial disease: Proceed with caution.
Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Parikh S, et al. Among authors: dimmock d. Mol Genet Metab. 2016 Jul;118(3):178-184. doi: 10.1016/j.ymgme.2016.04.009. Epub 2016 Apr 20. Mol Genet Metab. 2016. PMID: 27312126
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Among authors: dimmock d. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.
156 results