Recent advances in the epidemiology and genetics of acute intermittent porphyria
Author:
Affiliation:
1. Department of Endocrinology, The second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
2. School of First Clinical Medical College, Southern Medical University, Guangzhou, Guangdong, China.
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03082/_pdf
Reference119 articles.
1. 1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010; 375:924-937.
2. 2. Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias, in: The Online Metabolic and Molecular Bases of Inherited Disease (Scriver C, Beaudet A, Sly W, Valle D, eds.). McGraw Hill, New York, 2001; pp. 2961-3062.
3. 3. Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014; 4:977-1006.
4. 4. Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute hepatic porphyrias: Review and recent progress. Hepatol Commun. 2019; 3:193-206.
5. 5. Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G. Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. Proc Natl Acad Sci U.S.A. 2018; 115:E4071-E4080.
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