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PedAM

Pediatric Disease Annotations & Medicines




Disease urea cycle disorder
Phenotype C0268542|ornithine transcarbamylase deficiency
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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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