Results 121 to 130 of about 2,271 (165)

German Porphyria Registry (PoReGer)-Background and Setup. [PDF]

Healthcare (Basel)
Gerischer L, Mainert M, Wohmann N, Kubisch I, Stölzel U, Stauch T, von Wegerer S, Braun F, Weiler-Normann C, Blaschke S, Frank J, Somasundaram R, Diehl-Wiesenecker E.   +12 more
europepmc   +1 more source

Hepatoerythropoietic Porphyria with Coexisting <i>BTD</i> And <i>CNGB1</i> Genetic Mutations: A First Case Report. [PDF]

Eur J Case Rep Intern Med
Kaya Ç, Heydari A, Kızılay O, Kızılay O, Sezgin G.   +4 more
europepmc   +1 more source

Atypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria? [PDF]

Clin Genet
Dotto PG, de Azevedo Vasconccellos MR, da Silva Franco JF, Gomes CP, Pesquero JB.   +4 more
europepmc   +1 more source

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management. [PDF]

Clin Exp Gastroenterol
Thapar M, Singh A, Robinson KM, Bonkovsky HL.   +3 more
europepmc   +1 more source

Fluorescent Yellow Urine Induced by Vonoprazan Fumarate: A Case Report of a Benign Phenomenon. [PDF]

Cureus
Sheng L, Li X.
europepmc   +1 more source

Liver transplantation and primary liver cancer in porphyria. [PDF]

Liver Int
Lissing M, Wang B, Wahlin S.
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 Rep
Schacht G, Elbracht M, Minder AE, Stauch T, Stoppe A, Lausberg E, Häusler M.   +6 more
europepmc   +1 more source