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Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup.
Waisbren SE, Christ SE, Bilder DA, Bjoraker KJ, Bolton S, Chamberlin S, Grant ML, Janzen DM, Katz R, Lubliner E, Martin A, McQueen K, Moshkovich O, Nguyen-Driver M, Shim S, Stefanatos AK, Wilkening G, Harding C. Waisbren SE, et al. Among authors: nguyen driver m. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108555. doi: 10.1016/j.ymgme.2024.108555. Epub 2024 Jul 25. Mol Genet Metab. 2024. PMID: 39089209 No abstract available.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC 2nd, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC. Burton BK, et al. Among authors: nguyen driver md. Mol Genet Metab. 2022 Sep-Oct;137(1-2):114-126. doi: 10.1016/j.ymgme.2022.07.012. Epub 2022 Jul 29. Mol Genet Metab. 2022. PMID: 36027720 Free article.
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Eroglu Y, et al. Among authors: nguyen driver m. Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28349652 Free PMC article.
ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus.
Lerner S, Anderzhanova E, Verbitsky S, Eilam R, Kuperman Y, Tsoory M, Kuznetsov Y, Brandis A, Mehlman T, Mazkereth R; UCDC Neuropsychologists; McCarter R, Segal M, Nagamani SCS, Chen A, Erez A. Lerner S, et al. Cell Rep. 2019 Nov 19;29(8):2144-2153.e7. doi: 10.1016/j.celrep.2019.10.043. Cell Rep. 2019. PMID: 31747589 Free PMC article.
The Arizona Cognitive Test Battery for Down Syndrome: Test-Retest Reliability and Practice Effects.
Edgin JO, Anand P, Rosser T, Pierpont EI, Figueroa C, Hamilton D, Huddleston L, Mason G, Spanò G, Toole L, Nguyen-Driver M, Capone G, Abbeduto L, Maslen C, Reeves RH, Sherman S. Edgin JO, et al. Among authors: nguyen driver m. Am J Intellect Dev Disabil. 2017 May;122(3):215-234. doi: 10.1352/1944-7558-122.3.215. Am J Intellect Dev Disabil. 2017. PMID: 28452581 Free PMC article.
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.
Selden NR, Al-Uzri A, Huhn SL, Koch TK, Sikora DM, Nguyen-Driver MD, Guillaume DJ, Koh JL, Gultekin SH, Anderson JC, Vogel H, Sutcliffe TL, Jacobs Y, Steiner RD. Selden NR, et al. Among authors: nguyen driver md. J Neurosurg Pediatr. 2013 Jun;11(6):643-52. doi: 10.3171/2013.3.PEDS12397. Epub 2013 Apr 12. J Neurosurg Pediatr. 2013. PMID: 23581634 Clinical Trial.