Results 41 to 50 of about 5,659 (182)
Erythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You [PDF]
, 2022 Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his ...
Hsu| +3 more
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Investigation of an atypical protoporphyric family in South Africa [PDF]
, 2010 Includes bibliographical references (leaves 171-184).Affected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria.
Haumann, Carel Eduard
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Photodermatoses in Children [PDF]
JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017 Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah +2 more
doaj +1 more source
Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria
Diagnostics, 2022 Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Elena Di Pierro +10 more
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A Case of Erythropoietic Protoporphyria [PDF]
Baylor University Medical Center Proceedings, 2016 A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts.
Kathryn, Lindsey +2 more
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The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
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Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Metabolites, 2021 Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli +6 more
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Molecular characterisation of erythropoietic protoporphyria in South Africa [PDF]
, 2006 Includes bibliographical ...
Parker, Michelle
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Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur +3 more
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, 2022 Supplementary Materials for "Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria" published in the Journal of the American Academy of Dermatology.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ...
Dickey, A (via Mendeley Data) +1 more
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