Results 131 to 140 of about 1,644 (213)

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

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

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

Cureus
Chowdhury S, Weissman B, Lambroussis CG.
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

Editorial: Heme physiology and pathology. [PDF]

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

(3) PATHOGENESIS OF HEPATIC PORPHYRIAS

Nihon Naika Gakkai Zasshi, 1967
openaire   +3 more sources

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

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria. [PDF]

Liver Int
Merati M, Jayakumar N, Kapoor Y, Naik H, Balwani M, Anderson KE, Bonkovsky HL, Desnick RJ, McGuire B, Phillips J, Bissell DM, Wang B.   +11 more
europepmc   +1 more source

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria. [PDF]

Case Rep Transplant
Petrides PE, Andrassy J, Guba M, Stangl M, Bronisch O, Beykirch MK.   +5 more
europepmc   +1 more source