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PedAM

Pediatric Disease Annotations & Medicines




Disease porphyria
Phenotype C0442874|neuropathy
Sentences 1
PubMedID- 21855406 The neuropathy associated with acute intermittent porphyria (aip) occurs due to mutation involving the enzyme porphobilinogen deaminase (pbgd) and is characterised by motor-predominant features.

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