[1] |
Red blood cell diseases(anemia) Group, Hematology Society, Chinese Medical Association. Expert consensus on diagnosis and treatment of porphyria in China(2020)[J]. Natl Med J China, 2020, 100( 14): 1051- 1056. DOI: 10.3760/cma.j.cn112137-20200219-00349.
中华医学会血液学分会红细胞疾病(贫血)学组. 中国卟啉病诊治专家共识(2020年)[J]. 中华医学杂志, 2020, 100( 14): 1051- 1056. DOI: 10.3760/cma.j.cn112137-20200219-00349.
|
[2] |
BALWANI M. Erythropoietic protoporphyria and X-linked protoporphyria: Pathophysiology, genetics, clinical manifestations, and management[J]. Mol Genet Metab, 2019, 128( 3): 298- 303. DOI: 10.1016/j.ymgme.2019.01.020.
|
[3] |
PHILLIPS JD. Heme biosynthesis and the porphyrias[J]. Mol Genet Metab, 2019, 128( 3): 164- 177. DOI: 10.1016/j.ymgme.2019.04.008.
|
[4] |
YASUDA M, CHEN B, DESNICK RJ. Recent advances on porphyria genetics: Inheritance, penetrance& molecular heterogeneity, including new modifying/causative genes[J]. Mol Genet Metab, 2019, 128( 3): 320- 331. DOI: 10.1016/j.ymgme.2018.11.012.
|
[5] |
MA JH, WANG X, XIAO SX. Relationship between the genotype and phenotype of erythropoietic protoporphyria[J]. Chin J Dermatol, 2013, 46( 7): 507- 508. DOI: 10.3760/cma.j.issn.0412-4030.2013.07.017.
马俊红, 王昕, 肖生祥. 红细胞生成性原卟啉病基因表达与表现型关系研究[J]. 中华皮肤科杂志, 2013, 46( 7): 507- 508. DOI: 10.3760/cma.j.issn.0412-4030.2013.07.017.
|
[6] |
MIZAWA M, MAKINO T, NAKANO H, et al. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene[J]. Br J Dermatol, 2016, 174( 1): 172- 175. DOI: 10.1111/bjd.14078.
|
[7] |
GOUYA L, PUY H, ROBREAU AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH[J]. Nat Genet, 2002, 30( 1): 27- 28. DOI: 10.1038/ng809.
|
[8] |
NAKANO H, NAKANO A, TOYOMAKI Y, et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population[J]. J Invest Dermatol, 2006, 126( 12): 2717- 2719. DOI: 10.1038/sj.jid.5700456.
|
[9] |
GRANATA F, DUCA L, GRAZIADEI G, et al. Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria(EPP) patients[J]. Immunol Res. 2019, 67( 4-5): 382- 389. DOI: 10.1007/s12026-019-09097-5.
|
[10] |
LECHA M, PUY H, DEYBACH JC. Erythropoietic protoporphyria[J]. Orphanet J Rare Dis, 2009, 4: 19. DOI: 10.1186/1750-1172-4-19.
|
[11] |
ZHANG Y, GUO R, MIAO XX, et al. Research progress on porphyrin’s metabolism and chronic liver disease[J]. J World Latest Med Inf, 2019, 19( 99): 127- 128, 130. DOI: 10.19613/j.cnki.1671-3141.2019.99.061.
张璎, 郭蕊, 苗向霞, 等. 卟啉代谢与慢性肝病相关研究进展[J]. 世界最新医学信息文摘, 2019, 19( 99): 127- 128, 130. DOI: 10.19613/j.cnki.1671-3141.2019.99.061.
|
[12] |
SETH AK, BADMINTON MN, MIRZA D, et al. Liver transplantation for porphyria: who, when, and how?[J]. Liver Transpl, 2007, 13( 9): 1219- 1227. DOI: 10.1002/lt.21261.
|
[13] |
LALA SM, NAIK H, BALWANI M. Diagnostic delay in erythropoietic protoporphyria[J]. J Pediatr, 2018, 202: 320- 323. DOI: 10.1016/j.jpeds.2018.06.001.
|
[14] |
WENSINK D, WAGENMAKERS M, LANGENDONK JG. Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria[J]. Expert Rev Clin Pharmacol, 2021, 14( 2): 151- 160. DOI: 10.1080/17512433.2021.1879638.
|
[15] |
BALWANI M, DESNICK RJ. The porphyrias: advances in diagnosis and treatment[J]. Blood, 2012, 120( 23): 4496- 4504. DOI: 10.1182/blood-2012-05-423186.
|
[16] |
HEERFORDT IM, LERCHE CM, WULF HC. Cimetidine for erythropoietic protoporphyria[J]. Photodiagnosis Photodyn Ther, 2022, 38: 102793. DOI: 10.1016/j.pdpdt.2022.102793.
|