Literature DB >> 26743056

[Porphyrias : Metabolic disorders of heme biosynthesis].

J Frank1.   

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Year:  2016        PMID： 26743056     DOI： 10.1007/s00105-015-3748-0

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


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  12 in total

Review 1.  Porphyria for the general physician.

Authors:  Timothy J Peters; Robert Sarkany
Journal:  Clin Med (Lond)       Date:  2005 May-Jun       Impact factor: 2.659

Review 2.  The porphyrias: clinical presentation, diagnosis and treatment.

Authors:  P Poblete-Gutiérrez; T Wiederholt; H F Merk; J Frank
Journal:  Eur J Dermatol       Date:  2006 May-Jun       Impact factor: 3.328

Review 3.  Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.

Authors:  Mary E Horner; Ali Alikhan; Suzanne Tintle; Silvia Tortorelli; Dawn Marie R Davis; Jennifer L Hand
Journal:  Int J Dermatol       Date:  2013-12       Impact factor: 2.736

4.  C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Authors:  Sharon D Whatley; Sarah Ducamp; Laurent Gouya; Bernard Grandchamp; Carole Beaumont; Michael N Badminton; George H Elder; S Alexander Holme; Alexander V Anstey; Michelle Parker; Anne V Corrigall; Peter N Meissner; Richard J Hift; Joanne T Marsden; Yun Ma; Giorgina Mieli-Vergani; Jean-Charles Deybach; Hervé Puy
Journal:  Am J Hum Genet       Date:  2008-09-04       Impact factor: 11.025

Review 5.  Hereditary coproporphyria.

Authors:  P Martásek
Journal:  Semin Liver Dis       Date:  1998       Impact factor: 6.115

Review 6.  Porphyrias: A 2015 update.

Authors:  Zoubida Karim; Said Lyoumi; Gael Nicolas; Jean-Charles Deybach; Laurent Gouya; Hervé Puy
Journal:  Clin Res Hepatol Gastroenterol       Date:  2015-07-02       Impact factor: 2.947

Review 7.  Genetic aspects of porphyria cutanea tarda.

Authors:  Richard W Lambrecht; Manish Thapar; Herbert L Bonkovsky
Journal:  Semin Liver Dis       Date:  2007-02       Impact factor: 6.115

Review 8.  Porphyria cutanea tarda--when skin meets liver.

Authors:  Jorge Frank; Pamela Poblete-Gutiérrez
Journal:  Best Pract Res Clin Gastroenterol       Date:  2010-10       Impact factor: 3.043

Review 9.  The acute hepatic porphyrias: current status and future challenges.

Authors:  Marko Siegesmund; Anne-Moniek van Tuyll van Serooskerken; Pamela Poblete-Gutiérrez; Jorge Frank
Journal:  Best Pract Res Clin Gastroenterol       Date:  2010-10       Impact factor: 3.043

10.  Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

Authors:  Mauro D'Amato; Margherita Bonuglia; Simona Barile; Daniela Griso; Annelisa Macri; Gianfranco Biolcati
Journal:  Hum Mutat       Date:  2003-04       Impact factor: 4.878
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