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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA. Janer A, et al. Among authors: dunbar m. Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604853 Free PMC article.
Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.
Jaggumantri S, Dunbar M, Edgar V, Mignone C, Newlove T, Elango R, Collet JP, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Jaggumantri S, et al. Among authors: dunbar m. Pediatr Neurol. 2015 Oct;53(4):360-363.e2. doi: 10.1016/j.pediatrneurol.2015.05.006. Epub 2015 May 16. Pediatr Neurol. 2015. PMID: 26205312
631 results