دورية أكاديمية
أعرض في EDS

Congenital erythropoietic porphyria.

التفاصيل البيبلوغرافية
العنوان: Congenital erythropoietic porphyria.
المؤلفون: To-Figueras J; Biochemistry and Molecular Genetics Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain., Erwin AL; Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care, Cleveland Clinic, Cleveland, Ohio, USA., Aguilera P; Dermatology Unit, Hospital Clinic, University of Barcelona, Barcelona, Spain., Millet O; Precision Medicine and Metabolism Laboratory, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), Bilbao, Spain., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
المصدر: Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2024 Aug; Vol. 44 (8), pp. 1842-1855. Date of Electronic Publication: 2024 May 08.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101160857 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1478-3231 (Electronic) Linking ISSN: 14783223 NLM ISO Abbreviation: Liver Int Subsets: MEDLINE
أسماء مطبوعة: Publication: Malden, MA : Wiley-Blackwell
Original Publication: Oxford, UK : Blackwell Munksgaard, c2003-
مواضيع طبية MeSH: Porphyria, Erythropoietic*/genetics , Porphyria, Erythropoietic*/diagnosis , Porphyria, Erythropoietic*/therapy , Uroporphyrinogen III Synthetase*/genetics , Uroporphyrinogen III Synthetase*/metabolism, Humans ; Uroporphyrins/genetics
مستخلص: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease due to the deficient, but not absent, activity of uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthesis pathway. Biallelic variants in the UROS gene result in decreased UROS enzymatic activity and the accumulation of non-physiologic Type I porphyrins in cells and fluids. Overproduced uroporphyrins in haematopoietic cells are released into the circulation and distributed to tissues, inducing primarily hematologic and dermatologic symptoms. The clinical manifestations vary in severity ranging from non-immune hydrops fetalis in utero to mild dermatologic manifestations in adults. Here, the biochemical, molecular and clinical features of CEP as well as current and new treatment options, including the rescue of UROS enzyme activity by chaperones, are presented.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
References: Schultz JH. A Case of Pemphigus Leprosus, Complicated by Visceral Leprosy. Dissertation. Greifswald; 1874.
Baumstark F. Zwei pathologische Harnfarbstoffe. Pflugers Arch Gesamte Physiol Menschen Tiere. 1874;9:568‐584.
Hope‐Seyler F. Das Hämatin. Tübinger Med‐Chem Untersuchungen. 1871;4:523‐533.
Gagey PL. Un cas d'hémoglobinurie en cours d'un xeroderma pigmentosum. Doctoral Thesis. Faculté de Médecine de Paris. Paris. 1896;1‐74.
Vollmer E. Über hereditäre Syphilis und Haematoporphyrinurie. Arch Derm Syph. 1903;65:221‐234.
McCall‐Anderson T. Hydroa aestivale in two brothers, complicated with the presence of haematoporphyrin in the urine. Br J Dermatol. 1898;10:1‐4.
Gunther H. Die haematoporphyrie. Dtsch Arch Klin Med. 1912;105:89‐146.
Gunther H. Bedeutung der haematoporphyrinurie in der physiologie und pathologie. Ergeb Allg Pathol Pathol Anat. 1922;20:608‐764.
Garrod AE. Inborn Errors of Metabolism. Oxford University Press; 1923.
Fisher H, Hilmer H, Lindner F, Putzer B. Chemische befunde bei einem fall von porphyrie (Petry). Hoppe Seylers Z Physiol Chem. 1925;150:44‐101.
Schmid R, Schwartz S, Sundberg RD. Erythropoietic (congenital) porphyria: a rare abnormality of the normoblasts. Blood. 1955;10:416‐428.
Romeo G, Levin EY. Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria. Proc Natl Acad Sci USA. 1969;63:856‐863.
Tsai SF, Bishop DF, Desnick RJ. Purification and properties of uroporphyrinogen III synthase from human erythrocytes. J Biol Chem. 1987;262:1268‐1273.
Tsai SF, Bishop DF, Desnick RJ. Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full‐length cDNA. Proc Natl Acad Sci USA. 1988;85:7049‐7053.
Deybach JC, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y. Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). Blood. 1990;75:1763‐1765.
Astrin KH, Warner CA, Yoo HW, Goodfellow PJ, Tsai SF, Desnick RJ. Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2‐‐‐‐q26.3. Hum Genet. 1991;87:18‐22.
Aizencang G, Solis C, Bishop DF, Warner C, Desnick RJ. Human uroporphyrinogen‐III synthase: genomic organization, alternative promoters, and erythroid‐specific expression. Genomics. 2000;70:223‐231.
Piomelli S, Poh‐Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long‐term treatment with high‐level transfusions. N Engl J Med. 1986;314:1029‐1031.
Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone‐marrow transplantation for congenital erythropoietic porphyria. Lancet. 1991;337:1510‐1511.
Robert‐Richard E, Moreau‐Gaudry F, Lalanne M, et al. Effective gene therapy of mice with congenital erythropoietic porphyria is facilitated by a survival advantage of corrected erythroid cells. Am J Hum Genet. 2008;82:113‐124.
Fritsch C, Lang K, Bolsen K, Lehmann P, Ruzicka T. Congenital erythropoietic porphyria. Skin Pharmacol Appl Ski Physiol. 1998;11:347‐357.
Porra RJ, Falk JE. The enzymic conversion of coproporphyrinogen 3 into protoporphyrin 9. Biochem J. 1964;90:69‐75.
Mathews MA, Schubert HL, Whitby FG, et al. Crystal structure of human uroporphyrinogen III synthase. EMBO J. 2001;20:5832‐5839.
Cunha L, Kuti M, Bishop DF, et al. Human uroporphyrinogen III synthase: NMR‐based mapping of the active site. Proteins. 2008;71:855‐873.
Schubert HL, Phillips JD, Heroux A, Hill CP. Structure and mechanistic implications of a uroporphyrinogen III synthase‐product complex. Biochemistry. 2008;47:8648‐8655.
Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117:779‐795.
Fortian A, Castaño D, Ortega G, Laín A, Pons M, Millet O. Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability. Biochemistry. 2009;48:454‐461.
Hartl FU, Hayer‐Hartl M. Converging concepts of protein folding in vitro and in vivo. Nat Struct Mol Biol. 2009;16:574‐581.
Peinado CM, Díaz De Heredia C, To‐Figueras J, et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. Pediatr Dermatol. 2013;30:484‐489.
Blouin JM, Duchartre Y, Costet P, et al. Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. Proc Natl Acad Sci USA. 2013;110:18238‐18243.
Fortian A, Castao D, Gonzalez E, Lan A, Falcon‐Perez JM, Millet O. Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. Adv Protein Chem Struct Biol. 2011;83:43‐74. doi:10.1016/B978-0-12-381262-9.00002-1.
Solis C, Aizencang GI, Astrin KH, Bishop DF, Desnick RJ. Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest. 2001;107:753‐762.
Serra‐García L, Morgado‐Carrasco D, Pérez‐Valencia AI, et al. Acquired erythropoietic uroporphyria secondary to myeloid malignancy: a case report and literature review. Photodermatol Photoimmunol Photomed. 2022;38:86‐91.
Gross S. Hematologic studies on erythropoietic porphyria: a new case with severe hemolysis, chronic thrombocytopenia, and folic acid deficiency. Blood. 1964;23:762‐775.
Aldrich RA, Hawkinson V, Grinstein M, Watson CJ. Photosensitive or congenital porphyria with hemolytic anemia. I. Clinical and fundamental studies before and after splenectomy. Blood. 1951;6:685‐698.
Watson CJ, Perman V, Spurrell FA, Hoyt HH, Schwartz S. Some studies of the comparative biology of human and bovine erythropoietic porphyria. AMA Arch Intern Med. 1959;103:436‐444.
Pozzan M. [Congenital porphyria with hyperhemolysis; clinical studies]. Acta Paediatr Lat. 1953;6:995‐1012.
Varadi S. Haematological aspects in a case of erythropoietic porphyria. Br J Haematol. 1958;4:270‐280.
Sassa S. Hematologic aspects of the porphyrias. Int J Hematol. 2000;71:1‐17.
Gross S, Schoenberg MD, Mumaw VR. Electron microscopy of the red cells in erythropoietic porphyria. Blood. 1965;25:49‐55.
Kaufman BM, Vickers HR, Rayne J, Ryan TJ. Congenital erythropoietic porphyria. Report of a case. Br J Dermatol. 1967;79:210‐220.
Merino A, To‐Figueras J, Herrero C. Atypical red cell inclusions in congenital erythropoietic porphyria. Br J Haematol. 2006;132:124.
Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol. 1997;36:594‐610.
De Verneuil H, Moreau‐Gaudry F. Congenital erythropoietic porphyria. In: Karl K, Kevin S, Roger G, eds. The Porphyrin Handbook. Academic Press; 2003:43‐65.
Sandberg S, Brun A. Light‐induced protoporphyrin release from erythrocytes in erythropoietic protoporphyria. J Clin Invest. 1982;70:693‐698.
Katugampola RP, Badminton MN, Finlay AY, et al. Congenital erythropoietic porphyria: a single‐observer clinical study of 29 cases. Br J Dermatol. 2012;167:901‐913.
Kushner JP, Pimstone NR, Kjeldsberg CR, Pryor MA, Huntley A. Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis. Blood. 1982;59:725‐737.
Poh‐Fitzpatrick MB. Clinical features of the porphyrias. Clin Dermatol. 1998;16:251‐264.
Lim HW. Mechanisms of phototoxicity in porphyria cutanea tarda and erythropoietic protoporphyria. Immunol Ser. 1989;46:671‐685.
Spikes JD. Porphyrins and related compounds as photodynamic sensitizers. Ann N Y Acad Sci. 1975;244:496‐508.
Bolande RP, Wurz L. Photodynamic action. I. Mechanisms of photodynamic cytotoxicity. Arch Pathol (Chic). 1963;75:115‐122.
Lim HW, Perez HD, Poh‐Fitzpatrick M, Goldstein IM, Gigli I. Generation of chemotactic activity in serum from patients with erythropoietic protoporphyria and porphyria cutanea tarda. N Engl J Med. 1981;304:212‐216.
Laorr A, Greenspan A. Severe osteopenia in congenital erythropoietic porphyria. Can Assoc Radiol J. 1994;45:307‐309.
Pullon HW, Bellingham AJ, Humphreys S, Cundy TF. The osteodystrophy of congenital erythropoietic porphyria. Bone. 1991;12:89‐92.
Oliveri MB, Mautalen C, Mega M, Rossi E. Congenital erythropoietic porphyria: skeletal manifestations and effect of pamidronate treatment. Bone. 1994;15:101‐104.
Bhavasar R, Santoshkumar G, Prakash BR. Erythrodontia in congenital erythropoietic porphyria. J Oral Maxillofac Pathol. 2011;15:69‐73.
Hallai N, Anstey A, Mendelsohn S, et al. Pregnancy in a patient with congenital erythropoietic porphyria. N Engl J Med. 2007;357:622‐623.
Siddique SS, Gonzalez‐Gonzalez LA, Thakuria P, Chang PY, Foster CS. Scleral necrosis in a patient with congenital erythropoietic porphyria. Cornea. 2011;30:97‐99.
Kurihara K, Takamura N, Imaizumi S, Yamashita S, Kondo M. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria. Br J Ophthalmol. 2001;85:1265‐1266.
Hamard H, Guillerm AD, Onfray B, Guillaumat L. [Ocular complications of porphyria. A case of Günther's disease]. J Fr Ophtalmol. 1982;5:771‐777.
Mohan M, Goyal JL, Pakrasi S, Panda A. Corneoscleral ulceration in congenital erythropoietic porphyria (a case report). Jpn J Ophthalmol. 1988;32:21‐25.
Tanigawa K, Takamura N, Nakata K, Nagataki S, Yamashita S. Ocular complication in congenital erythropoietic porphyria. Ophthalmologica. 1996;210:183‐185.
Altiparmak UE, Oflu Y, Kocaoglu FA, Katircioglu YA, Duman S. Ocular complications in 2 cases with porphyria. Cornea. 2008;27:1093‐1096.
Ueda S, Rao GN, LoCascio JA, del Cerro M, Aquavella JV. Corneal and conjunctival changes in congenital erythropoietic porphyria. Cornea. 1989;8:286‐294.
Lim CK, Peters TJ. Urine and faecal porphyrin profiles by reversed‐phase high‐performance liquid chromatography in the porphyrias. Clin Chim Acta. 1984;139:55‐63.
Lim CK, Rideout JM, Wright DJ. High‐performance liquid chromatography of naturally occurring 8‐, 7‐, 6‐, 5‐ and 4‐carboxylic porphyrin isomers. J Chromatogr A. 1983;282:629‐641.
Elder GH, Smith SG, Herrero C, et al. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Lancet. 1981;1:916‐919.
Sassa S. ALAD porphyria. Semin Liver Dis. 1998;18:95‐101.
Tsai S, Bishop DF, Desnick RJ. Coupled‐enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Anal Biochem. 1987;166:120‐133.
Warner CA, Yoo HW, Roberts AG, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest. 1992;89:693‐700.
Xu W, Warner CA, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest. 1995;95:905‐912.
Tezcan I, Xu W, Gurgey A, et al. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood. 1998;92:4053‐4058.
Takamura N, Hombrados I, Tanigawa K, et al. Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. Am J Med Genet. 1997;70:299‐302.
Tanigawa K, Bensidhoum M, Takamura N, et al. A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. Hum Genet. 1996;97:557‐560.
Shady AA, Colby BR, Cunha LF, Astrin KH, Bishop DF, Desnick RJ. Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene. Br J Haematol. 2002;117:980‐987.
Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C. A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. Eur J Hum Genet. 1996;4:274‐282.
Blouin J‐M, Bernardo‐Seisdedos G, Sasso E, et al. Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. Hum Mol Genet. 2017;26:1565‐1576.
Verstraeten L, Van Regemorter N, Pardou A, et al. Biochemical diagnosis of a fatal case of Günther's disease in a newborn with hydrops foetalis. Eur J Clin Chem Clin Biochem. 1993;31:121‐128.
Lienhardt A, Aubard Y, Laroche C, et al. A rare cause of fetal ascites: a case report of Günther's disease. Fetal Diagn Ther. 1999;14:257‐261.
Pannier E, Viot G, Aubry MC, et al. Congenital erythropoietic porphyria (Günther's disease): two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn. 2003;23:25‐30.
Goudet C, Ged C, Petit A, et al. Severe perinatal presentations of Günther's disease: series of 20 cases and perspectives. Life (Basel). 2024;14:14.
Lazebnik N, Lazebnik RS. The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha‐fetoprotein. Prenat Diagn. 2004;24:282‐286.
Martinez Peinado C, Díaz de Heredia C, To‐Figueras J, et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. Pediatr Dermatol. 2013;30:484‐489.
Hogeling M, Nakano T, Dvorak CC, Maguiness S, Frieden IJ. Severe neonatal congenital erythropoietic porphyria. Pediatr Dermatol. 2011;28:416‐420.
Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001;45:279‐282.
Faraci M, Morreale G, Boeri E, et al. Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria. Pediatr Transplant. 2008;12:117‐120.
Fityan A, Fassihi H, Sarkany R. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. Clin Exp Dermatol. 2016;41:953‐954.
Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans‐acting mutation causative for a human porphyria. Blood. 2007;109:2618‐2621.
Di Pierro E, Russo R, Karakas Z, et al. Congenital erythropoietic porphyria linked to GATA1‐R216W mutation: challenges for diagnosis. Eur J Haematol. 2015;94:491‐497.
To‐Figueras J, Ducamp S, Clayton J, et al. ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria. Blood. 2011;118:1443‐1451.
Aguilera P, Badenas C, Whatley SD, To‐Figueras J. Late‐onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. Br J Dermatol. 2016;175:1346‐1350.
To‐Figueras J, Badenas C, Mascaró JM, et al. Study of the genotype‐phenotype relationship in four cases of congenital erythropoietic porphyria. Blood Cells Mol Dis. 2007;38:242‐246.
Ged C, Mégarbané H, Chouery E, Lalanne M, Mégarbané A, de Verneuil H. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. J Invest Dermatol. 2004;123:589‐591.
Mirmiran A, Poli A, Ged C, et al. Phlebotomy as an efficient long‐term treatment of congenital erythropoietic porphyria. Haematologica. 2021;106:913‐917.
Swanson LA, Johannsson F, Tortorelli S, Yi CA, Shah S. Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance. JAAD Case Rep. 2023;32:44‐47.
Podlipnik S, Guijarro F, Combalia A, et al. Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report. Br J Dermatol. 2018;179:486‐490.
Sarkany RPE, Ibbotson SH, Whatley SD, et al. Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria. J Invest Dermatol. 2011;131:1172‐1175.
Kontos AP, Ozog D, Bichakjian C, Lim HW. Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72‐year‐old man: report of a case and review of the literature. Br J Dermatol. 2003;148:160‐164.
Zix‐Kieffer I, Langer B, Eyer D, et al. Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease). Bone Marrow Transplant. 1996;18:217‐220.
Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant. 2001;27:101‐105.
Besnard C, Schmitt C, Galmiche‐Rolland L, et al. Bone marrow transplantation in congenital erythropoietic porphyria: sustained efficacy but unexpected liver dysfunction. Biol Blood Marrow Transplant. 2020;26:704‐711.
Dupuis‐Girod S, Akkari V, Ged C, et al. Successful match‐unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease). Eur J Pediatr. 2005;164:104‐107.
Taibjee SM, Stevenson OE, Abdullah A, et al. Allogeneic bone marrow transplantation in a 7‐year‐old girl with congenital erythropoietic porphyria: a treatment dilemma. Br J Dermatol. 2007;156:567‐571.
Thomas C, Ged C, Nordmann Y, et al. Correction of congenital erythropoietic porphyria by bone marrow transplantation. J Pediatr. 1996;129:453‐456.
Guarini L, Piomelli S, Poh‐Fitzpatrick MB. Hydroxyurea in congenital erythropoietic porphyria. N Engl J Med. 1994;330:1091‐1092.
Tishler PV, Winston SH. Rapid improvement in the chemical pathology of congenital erythropoietic porphyria with treatment with superactivated charcoal. Methods Find Exp Clin Pharmacol. 1990;12:645‐648.
Minder EI, Schneider‐Yin X, Möll F. Lack of effect of oral charcoal in congenital erythropoietic porphyria. N Engl J Med. 1994;330:1092‐1094.
Gorchein A, Guo R, Lim CK, Raimundo A, Pullon HW, Bellingham AJ. Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal. Biomed Chromatogr. 1998;12:350‐356.
Watson CJ, Bossenmaier I, Cardinal R, Petryka ZJ. Repression by hematin of porphyrin biosynthesis in erythrocyte precursors in congenital erythropoietic porphyria. Proc Natl Acad Sci USA. 1974;71:278‐282.
Rank JM, Straka JG, Weimer MK, Bossenmaier I, Taddeini BL, Bloomer JR. Hematin therapy in late onset congenital erythropoietic porphyria. Br J Haematol. 1990;75:617‐618.
Egan DN, Yang Z, Phillips J, Abkowitz JL. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. Blood. 2015;126:257‐261.
Blouin J‐M, Ged C, Lalanne M, et al. Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria. Blood. 2020;136:2457‐2468.
Urquiza P, Laín A, Sanz‐Parra A, et al. Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. Sci Transl Med. 2018;10:10.
Bernardo‐Seisdedos G, Charco JM, SanJuan I, et al. Improving the pharmacological properties of ciclopirox for its use in congenital erythropoietic porphyria. J Pers Med. 2021;11:485.
فهرسة مساهمة: Keywords: erythroid disease; heme biosynthesis pathway; porphyria; uroporphyrinogen III synthase
المشرفين على المادة: EC 4.2.1.75 (Uroporphyrinogen III Synthetase)
0 (Uroporphyrins)
تواريخ الأحداث: Date Created: 20240508 Date Completed: 20240716 Latest Revision: 20240716
رمز التحديث: 20240716
DOI: 10.1111/liv.15958
PMID: 38717058
قاعدة البيانات: MEDLINE
الوصف
تدمد:1478-3231
DOI:10.1111/liv.15958