Disease | urea cycle disorder |
Phenotype | C0268542|ornithine transcarbamylase deficiency |
Sentences | 2 |
PubMedID- 24215330 | Presumptive diagnosis can prompt recommended interventions, including diet modification for certain patients such as for ornithine transcarbamylase deficiency, one of the urea cycle disorders. |
PubMedID- 21989980 | Results: our case series comprises six urea cycle disorder patients, five with ornithine transcarbamylase deficiency and one with citrullinemia type 1. |
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