Literature DB >> 21332583

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden.

J Frank, P Poblete-Gutiérrez.   

Abstract

Mesh：

Year:  2010        PMID： 21332583     DOI： 10.1111/j.1365-2796.2010.02283.x

Source DB:  PubMed          Journal:  J Intern Med        ISSN： 0954-6820            Impact factor:   8.989


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  6 in total

Review 1.  [Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)].

Authors:  V Kürten; N J Neumann; J Frank
Journal:  Hautarzt       Date:  2016-03       Impact factor: 0.751

2.  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

3.  Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study.

Authors:  Hetanshi Naik; Shruti Shenbagam; Allysa Marie Go; Manisha Balwani
Journal:  Mol Genet Metab       Date:  2019-01-26       Impact factor: 4.797

4.  Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Authors:  Manisha Balwani; Dana Doheny; David F Bishop; Irina Nazarenko; Makiko Yasuda; Harry A Dailey; Karl E Anderson; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; John D Phillips; Lawrence Liu; Robert J Desnick
Journal:  Mol Med       Date:  2013-04-30       Impact factor: 6.354

5.  Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria.

Authors:  Hetanshi Naik; Jessica R Overbey; Robert J Desnick; Karl E Anderson; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; John D Phillips; Bruce Wang; Ashwani Singal; Manisha Balwani
Journal:  JIMD Rep       Date:  2019-09-14

Review 6.  Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria.

Authors:  Elena Di Pierro; Francesca Granata; Michele De Canio; Mariateresa Rossi; Andrea Ricci; Matteo Marcacci; Giacomo De Luca; Luisa Sarno; Luca Barbieri; Paolo Ventura; Giovanna Graziadei
Journal:  Diagnostics (Basel)       Date:  2022-01-08
  6 in total

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