|
[1]LECHA M, PUY H, DEYBACH JC.Erythropoietic protoporphyria[J].Orphanet J Rare Dis, 2009, 4 (1) :19.
|
|
[2]LI XQ, SHI J, LAI YM, et al.Erythropoietic protoporphyria with jaundice as the main manifestation:A clinical, pathological, and genetic analysis of 4 cases[J].J Clin Hepatol, 2017, 33 (7) :1332-1335. (in Chinese) 李晓青, 师杰, 赖雅敏, 等.4例以黄疸为主要表现的红细胞生成性原卟啉病临床、病理及遗传学分析[J].临床肝胆病杂志, 2017, 33 (7) :1332-1335.
|
|
[3]KHALIL MJ, FARAHMAD F, HIRBOD-MOBARAKEH A, et al.Erythropoietic protoporphyria and early onset of cholestasis[J].Turk J Pediatr, 2012, 54 (6) :645-650.
|
|
[4]FRANK J, NELSON J, WANG X, et al.Erythropoietic protoporphyria:Identification of novel mutation in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies[J].J Investig Med, 1999, 47 (6) :278-284.
|
|
[5]YAO Q, SU X, ALTMAN RD.Is remitting seronegative symmetrical synovitis with pitting edema (RS3PE) a subset of Rheumatoid Arthritis?[J].Semin Arthritis Rheum, 2010, 40 (1) :89-94.
|
|
[6]RUSSELL EB.Remitting seronegative symmetrical synovitis with pitting edema syndrome:Follow up forneoplasia[J].J Rheumatol, 2005, 32 (9) :1760-1761.
|
|
[7]BALWANI M, DOHENY D, BISHOP DF, et al.Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in north American patients reveal novel mutations and a high prevalence of x-linked protoporphyria[J].Mol Med, 2013, 19:26-35.
|
|
[8]GOUYA L, MARTIN-SCHMITT C, ROBREAU AM, et, al.Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria[J].Am J Hum Genet, 2006, 78 (1) :2-14.
|
|
[9]NAKAHASHI Y, FUJITA H, TAKETANI S, et al.The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria[J].Proc Natl Acad Sci U S A, 1992, 89 (1) :281-285.
|
|
[10]MA JH, XIAO SX, FENG YG, et al.Mutation analysis of ferrochelatase gene in a pedigree with erythropoietic protoporphyria[J].Chin J Dermatol, 2010, 43 (2) :85-87. (in Chinese) 马俊红, 肖生祥, 冯义国, 等.红细胞生成性原卟啉病一家系亚铁螯合酶基因突变检测[J].中华皮肤科杂志, 2010, 43 (2) :85-87.
|
|
[11]RIDLEY A.The neuropathy of acute intermittent porphyria[J].Q JMed, 1969, 38 (151) :307-333.
|
|
[12]GOLDBERG A.Acute inermittent porphyria:A study of 50 cases[J].Q J Med, 1959, 28 (110) :183-209.
|
|
[13]REISENAUERAK AK, SOON SL, LEE KK, ea al.Erythropoietic protoporphyria presenting with liver failure in adulthood[J].Dermatology, 2005, 210 (1) :72-73.
|
|
[14]MICHAELS BD, DEL ROSSO JQ, MOBINI N, et al.Erythropoietic protoporphyria:A case report and literature review[J].J Clin Aesthet Dermatol, 2010, 3 (7) :44-48.
|
|
[15]MCCARTY DJ, O'DUFFY JD, PEARSON L, et al.Remitting seronegative symmetrical synovitis with pitting edema, RS3PE syndrome[J].JAMA, 1985, 254 (19) :2763-2767.
|
|
[16]KIM ES, GARNOCK-JONES KP.Afamelanotide:A review in erythropoietic protoporphyria[J].Am J Clin Dermatol, 2016, 17 (2) :179-185.
|
|
[17]HONDA Y, KAWAKAMI Y, KAN H, et al.A second attack of cholestasis associated with erythropoietic protoporphyria was successfully treated by plasma exchange and blood transfusion[J].Clin J Gastroenterol, 2014, 7 (4) :333-337.
|
|
[18]LOCK G, HOLSTEGE A, MUELLER AR, et al.Liver failure in erythropoietc protoporphyria associated with choledocholithiasis and severe post-transplantation polyneuropathy[J].Liver, 1996, 16 (3) :211-217.
|
|
[19]CHEUNG CY, TAM S, LAM CW, et al.Allogenetic haematopoietic stem cell transplantation for erythropoietic protoporpyhria:A cautionary note[J].Blood cells Mol Dis, 2015, 54 (3) :266-267.
|
|
[20]MINGOZZI F, HIGH KA.Immune responses to AAV vectors, overcoming barriers to successful gene therapy[J].Blood, 2013, 122 (1) :23-36.
|
|
[21]SIEGESMUND M, van TUYLL van SEROOSKERKEN AM, POBLETE GUTIERREZ P, et al.The acute hepatic porphyrias:Current status and future challenges[J].Best Pract Res Clin Gastroenterol, 2010, 24 (5) :593-605.
|
DownLoad: