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8. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M. Am J Med Genet; 2000 Aug 14; 93(4):313-9. PubMed ID: 10946359 [Abstract] [Full Text] [Related]
17. A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency. Raper SE, Yudkoff M, Chirmule N, Gao GP, Nunes F, Haskal ZJ, Furth EE, Propert KJ, Robinson MB, Magosin S, Simoes H, Speicher L, Hughes J, Tazelaar J, Wivel NA, Wilson JM, Batshaw ML. Hum Gene Ther; 2002 Jan 01; 13(1):163-75. PubMed ID: 11779420 [Abstract] [Full Text] [Related]
18. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency. Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V. Clin Chem Lab Med; 2017 Jul 26; 55(8):1168-1177. PubMed ID: 28107167 [Abstract] [Full Text] [Related]
20. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hum Genet; 1991 Dec 26; 88(2):153-6. PubMed ID: 1721894 [Abstract] [Full Text] [Related] Page: [Next] [New Search]