Results 81 to 90 of about 27,170 (181)
Liver transplantation and primary liver cancer in porphyria
Liver International, Volume 45, Issue 3, March 2025.Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing +2 more
wiley +1 more source
Practical recommendations for biochemical and genetic diagnosis of the porphyrias
Liver International, Volume 45, Issue 3, March 2025.Abstract The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists.
Aasne K. Aarsand +4 more
wiley +1 more source
Downregulation of intestinal Farnesoid X Receptor in Erythropoietic protoporphyria [PDF]
, 2017 Erythropoietic protoporphyria (EPP) is characterized by accumulation of protoporphyrin IX (PPIX) in the body. The liver is the major organ responsible for PPIX excretion through the biliary system. Because PPIX is highly hydrophobic, an excess amount of
Pradhan, Komal
core
, 1990 Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. We have used a novel assay for this enzyme based on its ability to utilize zinc as a substrate to investigate the inheritance of EPP in nine affected families ...
Cox, T M +3 more
core +1 more source
Erythropoietic protoporphyria patients in Slovenia
, 2015 Background: There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.
Marko, Pij B. +4 more
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The role of ClpX in erythropoietic protoporphyria
, 2018 Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein.
Jacky Chung +5 more
core +1 more source
Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]
, 2018 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.
Minder, Elisabeth +2 more
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Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease
, 2018 The porphyrias are a group of rare metabolic disorders that result from defects in heme biosynthesis. Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children and is diagnosed in most individuals after the onset of cutaneous
Daniel H. Leung +2 more
core +1 more source
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria
, 2007 Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes life-long acute photosensitivity. Microcytic anemia occurs in 20% to 60% of patients.
Badminton, Michael Norman +4 more
core +1 more source