Literature DB >> 28854095

Porphyria.

D Montgomery Bissell1, Karl E Anderson1, Herbert L Bonkovsky1.   

Abstract

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Year:  2017        PMID: 28854095     DOI: 10.1056/NEJMra1608634

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


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  55 in total

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2.  Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.

Authors:  Pei Li; Dhiman Maitra; Ning Kuo; Herbert L Bonkovsky; M Bishr Omary
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7.  Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.

Authors:  Makiko Yasuda; Lin Gan; Brenden Chen; Chunli Yu; Jinglan Zhang; Miguel A Gama-Sosa; Daniela D Pollak; Stefanie Berger; John D Phillips; Winfried Edelmann; Robert J Desnick
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Review 8.  [Porphyrias-what is verified?]

Authors:  U Stölzel; I Kubisch; T Stauch
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Review 9.  Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).

Authors:  Herbert L Bonkovsky; Natalia Dixon; Sean Rudnick
Journal:  Mol Genet Metab       Date:  2019-03-06       Impact factor: 4.797

10.  Acute intermittent porphyria: A case report

Authors:  José Bustos; Ledmar Vargas; Ricardo Quintero
Journal:  Biomedica       Date:  2020-03-01       Impact factor: 0.935

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