H63D Syndrome is clinically the iron sibling of Wilson's Disease

H63D Syndrome (all 3 types), is considered a very rare disorder that is difficult to recognize due to its multifaceted nature. Even with homozygous mutation of the HFE gene H63D and the simultaneous presence of the typical clinical symptoms, few clinicians dare to care for affected patients. This is...

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1. Verfasser: Stone, Eric
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Sprache:eng
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Zusammenfassung:H63D Syndrome (all 3 types), is considered a very rare disorder that is difficult to recognize due to its multifaceted nature. Even with homozygous mutation of the HFE gene H63D and the simultaneous presence of the typical clinical symptoms, few clinicians dare to care for affected patients. This is inexplicable, because H63D Syndrome looked at on the meta-level is nothing more than Wilson disease caused by NTBI iron.
DOI:10.7910/dvn/yyd8pu