Metabolic Mysteries: Two adult siblings with liver disease and haematological abnormalities
JIMD PodcastsShow Notes
Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an attenuated presentation delayed recognition of the underlying disorder for years.
Read the paper: https://doi.org/10.1002/jmd2.70079
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