Literature DB >> 18647325

A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.

A Yrjönen, E Pischik, S Mehtälä, R Kauppinen.   

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Year:  2008        PMID： 18647325     DOI： 10.1111/j.1399-0004.2008.01061.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

Review 1.  Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management.

Authors:  Mohamed Kazamel; Robert J Desnick; John G Quigley
Journal:  Curr Neurol Neurosci Rep       Date:  2020-10-07       Impact factor: 5.081

2.  Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients.

Authors:  Daniel A Jaramillo-Calle; Daniel C Aguirre Acevedo
Journal:  JIMD Rep       Date:  2018-08-02

Review 3.  Acute porphyrias - A neurological perspective.

Authors:  Lea M Gerischer; Franziska Scheibe; Astrid Nümann; Martin Köhnlein; Ulrich Stölzel; Andreas Meisel
Journal:  Brain Behav       Date:  2021-10-17       Impact factor: 2.708

Review 4.  An update of clinical management of acute intermittent porphyria.

Authors:  Elena Pischik; Raili Kauppinen
Journal:  Appl Clin Genet       Date:  2015-09-01
  4 in total

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