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Porphyria: Case Report

open access: yes, 2017
It is reported the case of a 22-year-old woman with acute intermittent abdominal pain accompanied by tachycardia, sweating, arterial hypertension, difficulty in walking, and muscular pains because of neuropathy.
Manrique Asto, Nancy   +1 more
core  

The porphyrias [PDF]

open access: yesPhotodermatology, Photoimmunology & Photomedicine, 2002
openaire   +2 more sources

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis. [PDF]

open access: yesMol Genet Metab Rep
Vizerov T   +7 more
europepmc   +1 more source

Porphyria: A Rare, Complicated, and Misdiagnosed Disease

open access: yes, 2019
Diagnosis of porphyria is often difficult due to the range of symptoms, which are common in many other disorders, hence frequently leading to misdiagnosis.
Hudgins, Kerstin
core  

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