Literature DB >> 29166231

Porphyria.

D Montgomery Bissell1, Karl E Anderson2, Herbert L Bonkovsky3.   

Abstract

Mesh：

Year:  2017        PMID： 29166231     DOI： 10.1056/NEJMc1712682

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  6 in total

Review 1.  Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Authors:  Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2019-01-18       Impact factor: 4.797

2.  Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.

Authors:  Victor M Pulgar; Makiko Yasuda; Lin Gan; Robert J Desnick; Herbert L Bonkovsky
Journal:  Mol Genet Metab       Date:  2019-01-07       Impact factor: 4.797

3.  Clinical Challenges of Acute Porphyria in the Young Adult.

Authors:  Shannon Burns; Allison Harmel; Sally Miller; Gabriela Figueiredo Pucci; Jonathan Greco; Michael Pulley; Michael Pizzi
Journal:  Neurohospitalist       Date:  2022-02-09

Review 4.  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

5.  Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias.

Authors:  Ran Kaftory; Yonatan Edel; Igor Snast; Moshe Lapidoth; Rivka Mamet; Avishay Elis; Emmilia Hodak; Assi Levi
Journal:  Mol Genet Metab Rep       Date:  2021-01-13

6.  Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Authors:  Yanping Zhang; Han Xiao; Qiuhong Xiong; Changxin Wu; Ping Li
Journal:  Int J Mol Sci       Date:  2021-10-12       Impact factor: 5.923
  6 in total

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