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Porphyria: What Is It and Who Should Be Evaluated?

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive he...

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Bibliografiska uppgifter
I publikationen:Rambam Maimonides Med J
Huvudupphovsmän: Edel, Yonatan, Mamet, Rivka
Materialtyp: Artigo
Språk:Inglês
Publicerad: Rambam Health Care Campus 2018
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5916231/
https://ncbi.nlm.nih.gov/pubmed/29553924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5041/RMMJ.10333
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