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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Among authors: gropman al. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.
Cognitive outcome in urea cycle disorders.
Gropman AL, Batshaw ML. Gropman AL, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S58-62. doi: 10.1016/j.ymgme.2003.11.016. Mol Genet Metab. 2004. PMID: 15050975 Review.
The urea cycle disorders.
Helman G, Pacheco-Colón I, Gropman AL. Helman G, et al. Among authors: gropman al. Semin Neurol. 2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192511
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Vanderver A, et al. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9. Ann Neurol. 2016. PMID: 27159321 Free PMC article.
182 results