A type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report. [PDF]
Front Endocrinol (Lausanne)Yan X +6 more
europepmc +1 more source
Real-World Experience With Givosiran in Acute Porphyrias: A Narrative Review and a Novel Hypothesis. [PDF]
CureusPetrides PE.
europepmc +1 more source
Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report. [PDF]
Reports (MDPI)Peshin S +6 more
europepmc +1 more source
Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report. [PDF]
J Med Case RepSchacht G +6 more
europepmc +1 more source
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation. [PDF]
Gastroenterol Rep (Oxf)Stölzel U +5 more
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
Probable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report. [PDF]
CureusThanigasalan M.
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