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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease porphyria
Comorbidity C0442874|neuropathy
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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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