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(porphyria)
10,396 results
  • StatPearls: Acute Intermittent Porphyria [BOOK]
    StatPearls Publishing: Treasure Island (FL) Gonzalez-Mosquera Luis F. LF Nassau University Medical Center Sonthalia Sidharth S SKINNOCENCE: The Skin Clinic BOOK
  • 'Porphyria' has been derived from the ancient Greek word porphura, meaning purple. Porphyrins are precursors of heme, an essential component of hemoglobin. Each subunit of hemoglobin is a globular protein containing an embedded heme group that contains one iron atom, capable of binding one oxygen molecule. The heme synthesis pathway is a multi-step process that involves a specific enzyme at every…
  • Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria. [Journal Article]
    Front Pharmacol 2019; 10:1018Fu Y, Jia J, … Shi T
  • The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS). The symptoms of AIP are acute neurovisceral attacks which are induced by the dysfunction of heme biosynthesis. To better interpret the underlying mechanism of clinical phenotypes, we collected 117 HMBS gene mutations from reported individuals with AIP…
  • Acute intermittent porphyria: analgesia can be dangerous. [Journal Article]
    BMJ Case Rep 2019; 12(9)Silva CD, Mateus JE, … Vaio T
  • Acute intermittent porphyria (AIP) is a rare condition, a metabolic disorder of the haem biosynthesis. An acute crisis of AIP can present as a combination of symptoms, such as abdominal pain, autonomic dysfunction, hyponatremia, muscle weakness and neurological symptoms in the absence of others obvious causes. We report the case of a 53-year-old woman, who was previously diagnosed with AIP 5 week…
  • The essential role of the transporter ABCG2 in the pathophysiology of erythropoietic protoporphyria. [Journal Article]
    Sci Adv 2019; 5(9):eaaw6127Wang P, Sachar M, … Ma X
  • Erythropoietic protoporphyria (EPP) is an inherited disease caused by loss-of-function mutations of ferrochelatase, an enzyme in the heme biosynthesis pathway that converts protoporphyrin IX (PPIX) into heme. PPIX accumulation in patients with EPP leads to phototoxicity and hepatotoxicity, and there is no cure. Here, we demonstrated that the PPIX efflux transporter ABCG2 (also called BCRP) determ…
  • Ocular manifestations in patient with congenital erythropoietic porphyria. [Case Reports]
    Indian J Ophthalmol 2019; 67(10):1765-1768Isanta-Otal C, López-Valverde G, … Pablo LE
  • We present the case of a 52-year-old woman referred to our service because of extreme ocular surface dryness. The patient showed corneal, conjunctival, and eyelid manifestations of ocular congenital erythropoietic porphyria (CEP). We started treatment with autologous serum, topical steroids, and cyclosporine twice a day, topical retinoids, and intense corneal lubrication. The patient referred sig…
  • Grover's Disease in a Kidney Transplant Recipient. [Journal Article]
    Acta Dermatovenerol Croat 2019; 27(3):192-194Kirincich J, Lončarić D, … Bašić-Jukić N
  • Dear Editor, It is not unusual for patients with renal insufficiency to develop skin pathologies. There are reports in the literature of increased incidence of calciphylaxis, pruritus, perforating dermatoses, and porphyria cutanea tarda in this patient population (1). Although it is quite rare, Grover's disease (GD) has been reported in several patients with renal insufficiency, but only once in …
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