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PedAM

Pediatric Disease Annotations & Medicines




Disease urea cycle disorder
Phenotype C0175683|argininosuccinate synthetase deficiency
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PubMedID- 24765495 Citrullinemia type i (ctln1 or citrullinemia, classic; omim 215700) is an autosomal recessive urea cycle disorder that results from argininosuccinate synthetase deficiency.

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