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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease citrullinemia type ii
Symptom C0019151|hepatic encephalopathy
Sentences 2
PubMedID- 20118603 Owing to the high carbohydrate content, the conventional low-protein diet therapy should be avoided in patients with hepatic encephalopathy associated with citrin deficiency.
PubMedID- 24234505 It is suggested that kgm may be a useful biomarker for many hyperammonemic diseases including hepatic encephalopathy, inborn errors of the urea cycle, citrin deficiency and lysinuric protein intolerance.

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