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Literature DB >> 30041937

Diagnostic Delay in Erythropoietic Protoporphyria.

Sajel M Lala¹, Hetanshi Naik¹, Manisha Balwani².

Abstract

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals.

Entities: Chemical Disease Gene Mutation Species

Keywords: photodermatoses; phototoxicity; porphyria

Mesh：

Year: 2018 PMID： 30041937 PMCID： PMC6203604 DOI： 10.1016/j.jpeds.2018.06.001

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

12 in total

1. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

Authors: Manisha Balwani; Hetanshi Naik; Karl E Anderson; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; John D Phillips; Jessica R Overbey; Bruce Wang; Ashwani K Singal; Lawrence U Liu; Robert J Desnick
Journal: JAMA Dermatol Date: 2017-08-01 Impact factor: 10.282

2. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.

Authors: G Biolcati; E Marchesini; F Sorge; L Barbieri; X Schneider-Yin; E I Minder
Journal: Br J Dermatol Date: 2015-04-30 Impact factor: 9.302

3. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

Authors: Eric W Gou; Manisha Balwani; D Montgomery Bissell; Joseph R Bloomer; Herbert L Bonkovsky; Robert J Desnick; Hetanshi Naik; John D Phillips; Ashwani K Singal; Bruce Wang; Sioban Keel; Karl E Anderson
Journal: Clin Chem Date: 2015-10-19 Impact factor: 8.327

4. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.

Authors: S A Holme; A V Anstey; A Y Finlay; G H Elder; M N Badminton
Journal: Br J Dermatol Date: 2006-09 Impact factor: 9.302

Review 5. Afamelanotide: A Review in Erythropoietic Protoporphyria.

Authors: Esther S Kim; Karly P Garnock-Jones
Journal: Am J Clin Dermatol Date: 2016-04 Impact factor: 7.403

6. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

Authors: S Wahlin; Y Floderus; P Stål; P Harper
Journal: J Intern Med Date: 2011-03 Impact factor: 8.989

7. Effect of cimetidine on delta-aminolevulinic acid synthase and microsomal heme oxygenase in rat liver.

Authors: D L Marcus; J L Halbrecht; A L Bourque; G Lew; H Nadel; M L Freedman
Journal: Biochem Pharmacol Date: 1984-07-01 Impact factor: 5.858

Review 8. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.

Authors: E I Minder; X Schneider-Yin; J Steurer; L M Bachmann
Journal: Cell Mol Biol (Noisy-le-grand) Date: 2009-02-16 Impact factor: 1.770

Review 9. Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Authors: Ashley M Lane; Jerome T McKay; Herbert L Bonkovsky
Journal: Appl Clin Genet Date: 2016-12-12

Review 10. Erythropoietic protoporphyria.

Authors: Mario Lecha; Hervé Puy; Jean-Charles Deybach
Journal: Orphanet J Rare Dis Date: 2009-09-10 Impact factor: 4.123

6 in total

Diagnostic Delay in Erythropoietic Protoporphyria.

1. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

2. Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.

3. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias.

4. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.

Review 5. Afamelanotide: A Review in Erythropoietic Protoporphyria.

6. Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

7. Effect of cimetidine on delta-aminolevulinic acid synthase and microsomal heme oxygenase in rat liver.

Review 8. A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.

Review 9. Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Review 10. Erythropoietic protoporphyria.

1. Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.

Review 2. Ferrochelatase: Mapping the Intersection of Iron and Porphyrin Metabolism in the Mitochondria.

Review 3. Xeroderma pigmentosum: an updated review.

4. Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

5. In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX.

6. Erythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You.