Page 600 - Hematology_ Basic Principles and Practice ( PDFDrive )
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513.e2 Part V Red Blood Cells
51. Day RS, Eales L, Meissner D: Coexistent variegate porphyria and 76. Gross U, Sassa S, Jacob K, et al: 5-Aminolevulinic acid dehydratase
porphyria cutanea tarda. N Engl J Med 307:36, 1982. deficiency porphyria: a twenty-year clinical and biochemical follow-up.
52. Akagi R, Inoue R, Muranaka S, et al: Dual gene defects involving Clin Chem 44:1892, 1998.
delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase 77. Ishida N, Fujita H, Fukuda Y, et al: Cloning and expression of the
in a porphyria patient. Br J Haematol 132:237, 2006. defective genes from a patient with delta-aminolevulinate dehydratase
53. Nordmann Y, Amram D, Deybach JC, et al: Coexistent hereditary porphyria. J Clin Invest 89:1431, 1992.
coproporphyria and congenital erythropoietic porphyria (Gunther 78. van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, et al:
disease). J Inherit Metab Dis 13:687, 1990. Digenic inheritance of mutations in the coproporphyrinogen oxidase
54. Poblete-Gutierrez P, Badeloe S, Wiederholt T, et al: Dual porphyrias and protoporphyrinogen oxidase genes in a unique type of porphyria.
revisited. Exp Dermatol 15:685, 2006. J Invest Dermatol 131:2249, 2011.
55. Whatley SD, Roberts AG, Elder GH: De-novo mutation and spo- 79. Moore MR, Goldberg A, Yeung-Laiwah AA: Lead effects on the heme
radic presentation of acute intermittent porphyria. Lancet 346:1007, biosynthetic pathway. Relationship to toxicity. Ann N Y Acad Sci
1995. 514:191, 1987.
56. Stine OC, Smith KD: The estimation of selection coefficients in Afri- 80. Watson CJ, Cardinal RA, Bossenmaier I, et al: Porphyria variegata and
kaners: huntington disease, porphyria variegata, and lipoid proteinosis. porphyria cutanea tarda in siblings: chemical and genetic aspects. Proc
Am J Hum Genet 46:452, 1990. Natl Acad Sci USA 72:5126, 1975.
57. Elder GH: Hepatic porphyrias in children. J Inherit Metab Dis 20:237, 81. Anderson KE, Collins S: Open-label study of hemin for acute por-
1997. phyria: clinical practice implications. Am J Med 119:801, 2006.
58. Stein PE, Badminton MN, Barth JH, et al: Acute intermittent por- 82. Dover SB, Moore MR, Fitzsimmons EJ, et al: Tin protoporphyrin
phyria: fatal complications of treatment. Clin Med 12:293, 2012. prolongs the biochemical remission produced by heme arginate in acute
59. Stewart MF: Review of hepatocellular cancer, hypertension and renal hepatic porphyria. Gastroenterology 105:500, 1993.
impairment as late complications of acute porphyria and recommenda- 83. Frei P, Minder EI, Corti N, et al: Liver transplantation because of
tions for patient follow-up. J Clin Pathol 65:976, 2012. acute liver failure due to heme arginate overdose in a patient with acute
60. Marsden JT, Rees DC: A retrospective analysis of outcome of pregnancy intermittent porphyria. Case Rep Gastroenterol 6:190, 2012.
in patients with acute porphyria. J Inherit Metab Dis 33:591, 2010. 84. Dowman JK, Gunson BK, Mirza DF, et al: Liver transplantation for
61. Hift RJ, MP, Moore MR: Porphyria: A toxicogenetic disease. In Kadish acute intermittent porphyria is complicated by a high rate of hepatic
KM, Smith KM, Guilard R, editors: The Porphyrin Handbook, Vol 14: artery thrombosis. Liver Transpl 18:195, 2012.
Medical aspects of porphyrins, San Diego, 2003, Academic Press. 85. Herrick AL, McColl KE, Wallace AM, et al: LHRH analogue treatment
62. Thunell S, Pomp E, Brun A: Guide to drug porphyrogenicity prediction for the prevention of premenstrual attacks of acute porphyria. Q J Med
and drug prescription in the acute porphyrias. Br J Clin Pharmacol 75:355, 1990.
64:668, 2007. 86. Cable EE, Pepe JA, Donohue SE, et al: Effects of mifepristone (RU-
63. Patience DA, Blackwood DH, McColl KE, et al: Acute intermittent 486) on heme metabolism and cytochromes P-450 in cultured chick
porphyria and mental illness—a family study. Acta Psychiatr Scand embryo liver cells, possible implications for acute porphyria. Eur J
89:262, 1994. Biochem 225:651, 1994.
64. Millward LM, Kelly P, Deacon A, et al: Self-rated psychosocial conse- 87. Poh-Fitzpatrick MB: Porphyrin-sensitized cutaneous photosensitivity:
quences and quality of life in the acute porphyrias. J Inherit Metab Dis pathogenesis and treatment. Clin Dermatol 3:41, 1985.
24:733, 2001. 88. Lim HW: Pathophysiology of cutaneous lesions in porphyrias. Semin
65. Bonkovsky HL, Siao P, Roig Z, et al: Case records of the Massachusetts Hematol 26:114, 1989.
General Hospital. Case 20-2008. A 57-year-old woman with abdominal 89. Fujita Y, Sato-Matsumura KC: Effective treatment for porphyria
pain and weakness after gastric bypass surgery. N Engl J Med 358:2813, cutanea tarda with oral cimetidine. J Dermatol 37:677, 2010.
2008. 90. Biolcati G, Marchesini E, Sorge F, et al: Long-term observational study
66. Hindmarsh JT, Oliveras L, Greenway DC: Biochemical differentiation of afamelanotide in 115 patients with erythropoietic protoporphyria.
of the porphyrias. Clin Biochem 32:609, 1999. Br J Dermatol 172:1601–1612, 2015.
67. Lamoril J, Puy H, Whatley SD, et al: Characterization of mutations in 91. Harms J, Lautenschlager S, Minder CE, et al: An alpha-melanocyte-
the CPO gene in British patients demonstrates absence of genotype- stimulating hormone analogue in erythropoietic protoporphyria. N
phenotype correlation and identifies relationship between hereditary Engl J Med 360:306, 2009.
coproporphyria and harderoporphyria. Am J Hum Genet 68:1130, 92. Dowman JK, Gunson BK, Mirza DF, et al: UK experience of liver
2001. transplantation for erythropoietic protoporphyria. J Inherit Metab Dis
68. Cacheux V, Martasek P, Fougerousse F, et al: Localization of the human 34:539, 2011.
coproporphyrinogen oxidase gene to chromosome band 3q12. Hum 93. Singal AK, Parker C, Bowden C, et al: Liver transplantation in the
Genet 94:557, 1994. management of porphyria. Hepatology 60:1082, 2014.
69. Allen KR, Whatley SD, Degg TJ, et al: Hereditary coproporphyria: 94. Katugampola RP, Anstey AV, Finlay AY, et al: A management algorithm
comparison of molecular and biochemical investigations in a large for congenital erythropoietic porphyria derived from a study of 29 cases.
family. J Inherit Metab Dis 28:779, 2005. Br J Dermatol 167:888, 2012.
70. Schmitt C, Gouya L, Malonova E, et al: Mutations in human CPO 95. Katugampola RP, Badminton MN, Finlay AY, et al: Congenital eryth-
gene predict clinical expression of either hepatic hereditary copropor- ropoietic porphyria: a single-observer clinical study of 29 cases. Br J
phyria or erythropoietic harderoporphyria. Hum Mol Genet 14:3089, Dermatol 167:901, 2012.
2005. 96. Rank JM, Straka JG, Weimer MK, et al: Hematin therapy in late
71. Logan GM, Weimer MK, Ellefson M, et al: Bile porphyrin analysis onset congenital erythropoietic porphyria. Br J Haematol 75:617,
in the evaluation of variegate porphyria. N Engl J Med 324:1408, 1990.
1991. 97. Blouin JM, Duchartre Y, Costet P, et al: Therapeutic potential of
72. Herrick AL, Moore MR, Thompson GG, et al: Cholelithiasis in proteasome inhibitors in congenital erythropoietic porphyria. Proc Natl
patients with variegate porphyria. J Hepatol 12:50, 1991. Acad Sci USA 110:18238, 2013.
73. Moore MR, Hift RJ: Drugs in the acute porphyrias–toxicogenetic 98. Bedel A, Taillepierre M, Guyonnet-Duperat V, et al: Metabolic cor-
diseases. Cell Mol Biol (Noisy-Le-Grand) 43:89, 1997. rection of congenital erythropoietic porphyria with iPSCs free of
74. Qin X, Tan Y, Wang L, et al: Structural insight into human variegate reprogramming factors. Am J Hum Genet 91:109, 2012.
porphyria disease. FASEB J 25:653, 2011. 99. de Verneuil H, Beaumont C, Deybach JC, et al: Enzymatic and
75. Wiman A, Harper P, Floderus Y: Nine novel mutations in the protopor- immunological studies of uroporphyrinogen decarboxylase in familial
phyrinogen oxidase gene in Swedish families with variegate porphyria. porphyria cutanea tarda and hepatoerythropoietic porphyria. Am J Hum
Clin Genet 64:122, 2003. Genet 36:613, 1984.

