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Protoporphyria 

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  1. Open Access 01-12-2023 | Erythropoietic Protoporphyria | OriginalPaper

    Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

    Porphyria is a group of rare diseases caused by the altered biosynthesis of heme. Defects in the ferrochelatase (FECH), delta-aminolevulinate synthase 2 (ALAS2) or caseinolytic mitochondrial matrix peptidase chaperone subunit (CLPX) genes are …

  2. Open Access 01-12-2023 | Protoporphyria | OriginalPaper

    Current trials in erythropoietic protoporphyria: are placebo controls ethical?

    A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III …

  3. 01-06-2022 | Myelodysplastic Syndrome | Letter

    Severe aplastic anemia in a patient with erythropoietic protoporphyria successfully treated by avatrombopag

  4. 01-12-2020 | Protoporphyria

    Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study

    Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism (prevalence 1:150′000) characterized by an excess production and the accumulation of the phototoxic heme precursor protoporphyrin IX (PPIX) during erythropoiesis [ 1 – …

  5. 01-10-2019 | Protoporphyria | OriginalPaper

    Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients

    Phototoxic reaction is a known feature of EPP at least in part triggered by the oxidative status, complement system activation, and mast cell response. The aim of this study was to verify some aspects involved in phototoxic reaction during a …

  6. 01-02-2022 | Protoporphyria | Letter

    Autofluorescent Red Blood Cells in Protoporphyria

  7. 01-10-2017 | OriginalPaper

    Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury

    A 21-year-old Japanese man was admitted to our hospital because of severe abdominal pain and jaundice. He had been suffering from abdominal pain attacks and liver dysfunction since 18 years of age. Liver histology showed amorphous brown deposits …

  8. 01-05-2017 | OriginalPaper

    Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity

    Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and …

  9. 01-04-2016 | OriginalPaper

    Afamelanotide: A Review in Erythropoietic Protoporphyria

    Afamelanotide (SCENESSE®) is a synthetic α-melanocyte stimulating hormone analogue and first-in-class melanocortin-1 receptor agonist that is approved in the EU for the prevention of phototoxicity in adults with erythropoietic protoporphyria

  10. 01-06-1997 | OriginalPaper

    Erythropoietic protoporphyria

    Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate …

  11. Open Access 01-12-2009 | ReviewPaper

    Erythropoietic protoporphyria

    Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported …

  12. 01-07-2010 | Letter

    Acquired erythropoietic protoporphyria

  13. 01-12-2010 | OriginalPaper

    Exacerbation of erythropoietic protoporphyria by hyperthyroidism

    Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity. Liver …

  14. 01-05-1999 | OriginalPaper

    Erythropoietic protoporphyria with fatal liver failure

    A 33-year-old woman with a history of photosensitivity, persistent abdominal pain, and liver dysfunction was admitted to our department because of abdominal pain and progression of liver dysfunction. On admission, levels of protoporphyrin and …

  15. 01-12-2010 | OriginalPaper

    Vitamin D deficiency in patients with erythropoietic protoporphyria

    Erythropoietic protoporphyria (EPP, OMIM 177000) is a rare inherited photodermatosis with systemic complications that was first described in 1961 (Magnus et al 1961 ). It is caused by partial deficiency of ferrochelatase (FECH), the final enzyme of …

  16. Open Access 01-04-2011 | OriginalPaper

    UK experience of liver transplantation for erythropoietic protoporphyria

    Erythropoietic protoporphyria (EPP) is characterised by excess production of free protoporphyrin from the bone marrow, most commonly due to deficiency of the enzyme ferrochelatase. Excess protoporphyrin gives rise to the cutaneous photosensitivity …

  17. 01-05-2000 | OriginalPaper

    Erythropoietic protoporphyria with severe liver dysfunction and acute pancreatitis

    A case of erythropoietic protoporphyria associated with severe hepatic dysfunction and acute pancreatitis is reported. The patient, a 33-year-old man, was admitted to our hospital complaining of upper abdominal pain, nausea, and vomiting of 3 …

  18. 01-09-2000 | OriginalPaper

    An ultrastructural study of the liver in erythropoietic protoporphyria

    An ultrastructural investigation of the liver was performed in two patients with erythropoietic protoporphyria. There were many protoporphyrin crystals in the hepatocytes, Kupffer cells, bile canaliculi, epithelia of bile ducts, and sinusoidal …

  19. 01-12-2013 | OriginalPaper

    Bone mineral density and vitamin D levels in erythropoietic protoporphyria

    Erythropoietic protoporphyria (EPP) is a rare disease with painful cutaneous photosensitivity, in which patients are recommended to avoid sun exposure, and wear sunscreen and adequate clothing. Our aim was to study bone mineral density (BMD) and …

  20. 01-12-2007 | OriginalPaper

    Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria

    The porphyrias are a group of uncommon metabolic diseases caused by enzyme deficiencies within heme biosynthesis that lead to neurotoxic or phototoxic heme precursor accumulation. There are four acute porphyrias characterized by neuropsy-chiatric …

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