Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report. [PDF]
CureusThanigasalan M.
europepmc +1 more source
Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report. [PDF]
BMC NeurolLi Y, Wang D, Hong D.
europepmc +1 more source
Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases. [PDF]
Mol Genet Metab RepAraque M +5 more
europepmc +1 more source
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening. [PDF]
Orphanet J Rare DisMusayeva G +11 more
europepmc +1 more source
Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria. [PDF]
CureusRoldão M +4 more
europepmc +1 more source
Constipation with megacolon or acute porphyria. [PDF]
Gastroenterol Rep (Oxf)Chen J, Zhou S, Chen Q, Tian H.
europepmc +1 more source
From photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap. [PDF]
Ann Med Surg (Lond)Ozukum ST +4 more
europepmc +1 more source
Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan. [PDF]
Orphanet J Rare DisWu WC +10 more
europepmc +1 more source
Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias. [PDF]
Biosci RepSchedlbauer A +9 more
europepmc +1 more source
SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]
Int J Mol SciSaraceno E +8 more
europepmc +1 more source