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- W2085486527 abstract "We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis." @default.
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- W2085486527 date "2006-02-01" @default.
- W2085486527 modified "2023-09-26" @default.
- W2085486527 title "An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient" @default.
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- W2085486527 doi "https://doi.org/10.1007/s10545-006-0193-3" @default.
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