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Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO. Nickerson SL, et al. Among authors: love jm. J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15. J Pediatr Genet. 2016. PMID: 27617160 Free PMC article.
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Ryder B, Knoll D, Love DR, Shepherd P, Love JM, Reed PW, de Hora M, Webster D, Glamuzina E, Wilson C. Ryder B, et al. Among authors: love jm. J Inherit Metab Dis. 2016 May;39(3):409-414. doi: 10.1007/s10545-015-9911-z. Epub 2016 Jan 7. J Inherit Metab Dis. 2016. PMID: 26743058
14 results