Results 101 to 110 of about 1,411 (134)

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, Xu Z, Huang Z, Chen J, Ye M, Huang Y, Wang C.   +6 more
europepmc   +1 more source

Psychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report. [PDF]

Noro Psikiyatr Ars
Şenel M, Çakmak IB, Gürkan Ş, Korkmaz ŞA, Çatlı B, Ceylan AC, Ürey GBC, Kasapkara ÇS, Göka E.   +8 more
europepmc   +1 more source

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

Mol Genet Metab Rep
Vizerov T, Demina N, Ponomarev R, Lukina E, Pshenichnikova O, Selivanova D, Tabakov V, Ryzhkova O.   +7 more
europepmc   +1 more source

Screening for acute hepatic porphyria in postural tachycardia syndrome. [PDF]

Clin Auton Res
Mwesigwa N, Williamson H, Turner S, Pouya ME, Ding T, Pedro OJ, Anderson KE, Shibao CA.   +7 more
europepmc   +1 more source

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria. [PDF]

JAAD Case Rep
Minder AE, Barman-Aksözen J.
europepmc   +1 more source

Understanding Coproporphyrins and Their Disposition: Coproporphyrinuria is Common, of Diverse Cause, and Rarely Indicates Porphyria. [PDF]

Am J Med
Bonkovsky HL, Ma CD, Araque M, Tiley JB, Brouwer KLR, Stölzel U.   +5 more
europepmc   +1 more source

Acute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia. [PDF]

Cureus
Chowdhury S, Weissman B, Lambroussis CG.
europepmc   +1 more source

Editorial: Heme physiology and pathology. [PDF]

Front Physiol
Di Pierro E, Duarte TL.
europepmc   +1 more source

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review. [PDF]

Orphanet J Rare Dis
Xiong H, He S, Yang Z, Zheng R, Yu H.
europepmc   +1 more source

Epidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan. [PDF]

Orphanet J Rare Dis
Wu WC, Yeh YH, Li CC, Wang YT, Chang YF, Chang CS, Wang RH, Wang JD, Kuo HC, Chen CH, Wu CH.   +10 more
europepmc   +1 more source