메뉴 건너뛰기




Volumn 4, Issue 2, 2004, Pages 243-249

Molecular diagnostics of acute intermittent porphyria

Author keywords

Diagnosis; Mutation; Porphyria

Indexed keywords

PORPHOBILINOGEN;

EID: 1542268290     PISSN: 14737159     EISSN: None     Source Type: Journal    
DOI: 10.1586/14737159.4.2.243     Document Type: Review
Times cited : (11)

References (55)
  • 1
    • 0000718795 scopus 로고    scopus 로고
    • Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias
    • Scriver CR, Beaudet A, Sly WS, Valle D (Eds), McGraw-Hill, NY, USA
    • Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet A, Sly WS, Valle D (Eds), McGraw-Hill, NY, USA, 2991-3062 (2001).
    • (2001) The Metabolic and Molecular Basis of Inherited Disease , pp. 2991-3062
    • Anderson, K.E.1    Sassa, S.2    Bishop, D.F.3    Desnick, R.J.4
  • 2
    • 0015509185 scopus 로고
    • Intermittent acute porphyria - Demonstration of a genetic defect in porphobilinogen metabolism
    • Meyer UA, Strand LJ, Doss M, Rees AC, Marver HS. Intermittent acute porphyria - demonstration of a genetic defect in porphobilinogen metabolism. N. Engl. J. Med. 286, 1277-1282 (1972).
    • (1972) N. Engl. J. Med. , vol.286 , pp. 1277-1282
    • Meyer, U.A.1    Strand, L.J.2    Doss, M.3    Rees, A.C.4    Marver, H.S.5
  • 3
    • 0024424094 scopus 로고
    • Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase
    • Grandchamp B, Picat C, Kauppinen R et al. Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase. Eur. J. Clin. Invest. 19, 415-148 (1989).
    • (1989) Eur. J. Clin. Invest. , vol.19 , pp. 415-148
    • Grandchamp, B.1    Picat, C.2    Kauppinen, R.3
  • 4
    • 0018855883 scopus 로고
    • A plasma porphyrin fluorescence marker for variegate porphyria
    • Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch. Dermatol. 116, 543-547 (1980).
    • (1980) Arch. Dermatol. , vol.116 , pp. 543-547
    • Poh-Fitzpatrick, M.B.1
  • 5
    • 0036840651 scopus 로고    scopus 로고
    • Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families
    • Kauppinen R, von und zu Fraunberg M. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin. Chem. 48, 1891-1900 (2002). Large series of acute intermittent porphyria (AIP) patients analyzed biochemically and using mutation analysis.
    • (2002) Clin. Chem. , vol.48 , pp. 1891-1900
    • Kauppinen, R.1    Von Und Zu Fraunberg, M.2
  • 6
    • 0028920536 scopus 로고
    • Diagnosis of acute intermittent porphyria in Northern Sweden: An evaluation of mutation analysis and biochemical methods
    • Andersson C, Thunell S, Floderus Y et al. Diagnosis of acute intermittent porphyria in Northern Sweden: an evaluation of mutation analysis and biochemical methods. J. Int. Med. 237, 301-308 (1995).
    • (1995) J. Int. Med. , vol.237 , pp. 301-308
    • Andersson, C.1    Thunell, S.2    Floderus, Y.3
  • 7
    • 10344236261 scopus 로고
    • Acute intermittent porphyria: A study of 50 cases
    • Goldberg A. Acute intermittent porphyria: a study of 50 cases. Q. J. Med. 28, 183-209 (1959).
    • (1959) Q. J. Med. , vol.28 , pp. 183-209
    • Goldberg, A.1
  • 8
    • 0014703261 scopus 로고
    • Acute intermittent porphyria: A clinical and biochemical study of 46 patients
    • Stein JA, Tschudy DP. Acute intermittent porphyria: a clinical and biochemical study of 46 patients. Medicine 49, 1-16 (1970).
    • (1970) Medicine , vol.49 , pp. 1-16
    • Stein, J.A.1    Tschudy, D.P.2
  • 9
    • 0017184454 scopus 로고
    • Hereditary hepatic porphyrias in Finland
    • Mustajoki P, Koskelo P. Hereditary hepatic porphyrias in Finland. Acta Med. Scand. 200, 171-178 (1976).
    • (1976) Acta Med. Scand. , vol.200 , pp. 171-178
    • Mustajoki, P.1    Koskelo, P.2
  • 10
    • 0030987819 scopus 로고    scopus 로고
    • The little imitator: Porphyria: A neuropsychiatric disorder
    • Crimlisk HL. The little imitator: porphyria: a neuropsychiatric disorder. J. Neurol. Neurosurg. Psychiatry 62, 319-328 (1997). Good clinical review.
    • (1997) J. Neurol. Neurosurg. Psychiatry , vol.62 , pp. 319-328
    • Crimlisk, H.L.1
  • 11
    • 0026595202 scopus 로고
    • Prognosis of acute porphyria: Occurrence of acute attacks, precipitating factors and associated diseases
    • Kauppinen R, Mustajoki P. Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors and associated diseases. Medicine 71, 1-13 (1992). One of the few current clinical articles on AIP.
    • (1992) Medicine , vol.71 , pp. 1-13
    • Kauppinen, R.1    Mustajoki, P.2
  • 12
    • 0031890977 scopus 로고    scopus 로고
    • Acute porphyrias: Pathogenesis of neurological manifestations
    • Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin. Liver Dis. 18, 43-52 (1998). Good description of potential pathophysiology of AIP.
    • (1998) Semin. Liver Dis. , vol.18 , pp. 43-52
    • Meyer, U.A.1    Schuurmans, M.M.2    Lindberg, R.L.3
  • 13
    • 0027235754 scopus 로고
    • Early administration of heme arginate for acute porphyric attacks
    • Mustajoki P, Nordmann Y. Early administration of heme arginate for acute porphyric attacks. Arch. Int. Med. 153, 2004-2008 (1993). Well-documented series of AIP patients treated with heme arginate.
    • (1993) Arch. Int. Med. , vol.153 , pp. 2004-2008
    • Mustajoki, P.1    Nordmann, Y.2
  • 14
    • 0029807940 scopus 로고    scopus 로고
    • Mortality in patients with acute intermittent porphyria requiring hospitalization: A United States case series
    • Jeans JB, Savik K, Gross CR et al. Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. Am J. Med. Genet. 65, 269-273 (1996).
    • (1996) Am. J. Med. Genet. , vol.65 , pp. 269-273
    • Jeans, J.B.1    Savik, K.2    Gross, C.R.3
  • 15
    • 0027956929 scopus 로고
    • Hypertension and renal disease in patients with acute intermittent porphyria
    • Andersson C, Lithner F. Hypertension and renal disease in patients with acute intermittent porphyria. J. Intern. Med. 236, 169-175 (1994).
    • (1994) J. Intern. Med. , vol.236 , pp. 169-175
    • Andersson, C.1    Lithner, F.2
  • 16
    • 0029966898 scopus 로고    scopus 로고
    • The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria
    • Andersson C, Bjersing L, Lithner F. The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria. J. Intern. Med. 240, 195-201 (1996).
    • (1996) J. Intern. Med. , vol.240 , pp. 195-201
    • Andersson, C.1    Bjersing, L.2    Lithner, F.3
  • 18
    • 0035984595 scopus 로고    scopus 로고
    • Diffusion-weighted magnetic resonance imaging of porphyric encephalopathy: A case report
    • Yen PS, Chen CJ, Lui CC, Wai YY, Wan YL. Diffusion-weighted magnetic resonance imaging of porphyric encephalopathy: a case report. Eur. Neurol. 48, 119-121 (2002).
    • (2002) Eur. Neurol. , vol.48 , pp. 119-121
    • Yen, P.S.1    Chen, C.J.2    Lui, C.C.3    Wai, Y.Y.4    Wan, Y.L.5
  • 19
    • 0031892865 scopus 로고    scopus 로고
    • Diagnosis of porphyric syndromes: A practical approach in the era of molecular biology
    • Bonkowsky HL, Barnard GF. Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology. Semin. Liver Dis. 18, 57-65 (1998).
    • (1998) Semin. Liver Dis. , vol.18 , pp. 57-65
    • Bonkowsky, H.L.1    Barnard, G.F.2
  • 21
    • 0031435392 scopus 로고    scopus 로고
    • The human serotonin transporter gene polymorphism: Basic research and clinical implications
    • Heils A, Mossner R, Lesch K. The human serotonin transporter gene polymorphism: basic research and clinical implications. J. Neural. Transm. 104, 1005-1014 (1997).
    • (1997) J. Neural. Transm. , vol.104 , pp. 1005-1014
    • Heils, A.1    Mossner, R.2    Lesch, K.3
  • 22
    • 0034533523 scopus 로고    scopus 로고
    • Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbital
    • Jover R, Hoffmann F, Scheffler-Koch V, Lindberg RL. Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbital. Eur. J. Biochem. 267, 7128-7137 (2000).
    • (2000) Eur. J. Biochem. , vol.267 , pp. 7128-7137
    • Jover, R.1    Hoffmann, F.2    Scheffler-Koch, V.3    Lindberg, R.L.4
  • 23
    • 0033560646 scopus 로고    scopus 로고
    • Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
    • Lindberg RL, Martini R, Baumgatner M et al. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. J. Clin. Invest. 103, 1127-1134 (1999).
    • (1999) J. Clin. Invest. , vol.103 , pp. 1127-1134
    • Lindberg, R.L.1    Martini, R.2    Baumgatner, M.3
  • 25
    • 0036713298 scopus 로고    scopus 로고
    • Advances in development of genetic markers for the diagnosis of disease and drug response
    • Halapi E, Hakonarson H. Advances in development of genetic markers for the diagnosis of disease and drug response. Expert Rev. Mol. Diagn. 2, 411-21 (2002).
    • (2002) Expert Rev. Mol. Diagn. , vol.2 , pp. 411-421
    • Halapi, E.1    Hakonarson, H.2
  • 26
    • 0028048027 scopus 로고
    • Effects of heme arginate on cytochrome P450-mediated metabolism of drugs in patients with variegate porphyria and healthy men
    • Mustajoki P, Mustajoki S, Rautio A, Arvela P, Pelkonen O. Effects of heme arginate on cytochrome P450-mediated metabolism of drugs in patients with variegate porphyria and healthy men. Clin. Pharmacol. Ther. 56, 9-13 (1994).
    • (1994) Clin. Pharmacol. Ther. , vol.56 , pp. 9-13
    • Mustajoki, P.1    Mustajoki, S.2    Rautio, A.3    Arvela, P.4    Pelkonen, O.5
  • 27
    • 0025895524 scopus 로고
    • Assignment of human porphobilinogen deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies
    • Namba H, Narahara K, Tsuji K, Yokoyama Y, Seino Y. Assignment of human porphobilinogen deaminase to 11q24.1-q24.2 by in situ hybridization and gene dosage studies. Cytogenet. Cell Genet. 57, 105-108 (1991).
    • (1991) Cytogenet. Cell Genet. , vol.57 , pp. 105-108
    • Namba, H.1    Narahara, K.2    Tsuji, K.3    Yokoyama, Y.4    Seino, Y.5
  • 28
    • 0023046949 scopus 로고
    • Molecular cloning and complete primary sequence of human erythrocyte PBG deaminase
    • Raich N, Romeo PH, Dubart A, Beaupain D, Cohen-Solal M, Goosens M. Molecular cloning and complete primary sequence of human erythrocyte PBG deaminase. Nucleic Acids Res. 14, 5955-5968 (1986). First article related to the characterization of the porphobilinogen deaminase (PBGD) cDNA.
    • (1986) Nucleic Acids Res. , vol.14 , pp. 5955-5968
    • Raich, N.1    Romeo, P.H.2    Dubart, A.3    Beaupain, D.4    Cohen-Solal, M.5    Goosens, M.6
  • 29
    • 0027409758 scopus 로고
    • Hydroxymethylbilane synthase: Complete genomic sequence and amplifiable polymorphisms in the human gene
    • Yoo HW, Warner CA, Chen CH, Desnick RJ. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 15, 21-29 (1993).
    • (1993) Genomics , vol.15 , pp. 21-29
    • Yoo, H.W.1    Warner, C.A.2    Chen, C.H.3    Desnick, R.J.4
  • 30
    • 0023141499 scopus 로고
    • Tissue-specific expression of porphobilinogen deaminase: Two isoenzymes from a single gene
    • Grandchamp B, de Verneuil H, Beaumont C, Chretien S, Walter O, Nordmann Y. Tissue-specific expression of porphobilinogen deaminase: two isoenzymes from a single gene. Eur. J. Biochem 162, 105-110 (1987). First article describing tissue specificity of PBGD.
    • (1987) Eur. J. Biochem. , vol.162 , pp. 105-110
    • Grandchamp, B.1    De Verneuil, H.2    Beaumont, C.3    Chretien, S.4    Walter, O.5    Nordmann, Y.6
  • 31
    • 0035254541 scopus 로고    scopus 로고
    • Human erythroid porphobilinogen deaminase exists in two splice variants
    • Gubin AN, Miller JL. Human erythroid porphobilinogen deaminase exists in two splice variants. Blood 97, 815-817 (2002).
    • (2002) Blood , vol.97 , pp. 815-817
    • Gubin, A.N.1    Miller, J.L.2
  • 32
    • 0016809641 scopus 로고
    • Acute intermittent porphyria: Clinical and selected research aspects
    • Tschudy DP, Valsamis M, Magnussen CR. Acute intermittent porphyria: clinical and selected research aspects. Ann. Int. Med. 83, 851-864 (1975).
    • (1975) Ann. Int. Med. , vol.83 , pp. 851-864
    • Tschudy, D.P.1    Valsamis, M.2    Magnussen, C.R.3
  • 33
  • 34
    • 0030799468 scopus 로고    scopus 로고
    • Acute intermittent porphyria: Prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
    • Nordmann Y, Puy H, Da Silva V et al. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. J. Int. Med. 242, 213-217 (1997).
    • (1997) J. Int. Med. , vol.242 , pp. 213-217
    • Nordmann, Y.1    Puy, H.2    Da Silva, V.3
  • 36
    • 0036957685 scopus 로고    scopus 로고
    • Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients
    • Schneider-Yin X, Hergersberg M, Goldgar DE et al. Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients. Hum. Hered. 54, 69-81 (2002).
    • (2002) Hum. Hered. , vol.54 , pp. 69-81
    • Schneider-Yin, X.1    Hergersberg, M.2    Goldgar, D.E.3
  • 37
    • 0032881791 scopus 로고    scopus 로고
    • Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
    • De Siervi A, Rossetti MV, Parera VE et al. Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. Am. J. Med. Genet. 86, 366-375 (1999).
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 366-375
    • De Siervi, A.1    Rossetti, M.V.2    Parera, V.E.3
  • 38
    • 0023461268 scopus 로고
    • Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction
    • Wu R (Ed.), Academic Press, NY, USA
    • Mullis KB, Faloona F. Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. In: Methods in Enzymology. Wu R (Ed.), Academic Press, NY, USA, 335-350 (1987).
    • (1987) Methods in Enzymology , pp. 335-350
    • Mullis, K.B.1    Faloona, F.2
  • 39
    • 0022372670 scopus 로고
    • Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
    • Saiki RK, Scharf S, Faloona F et al. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 20, 1350-1354 (1985).
    • (1985) Science , vol.20 , pp. 1350-1354
    • Saiki, R.K.1    Scharf, S.2    Faloona, F.3
  • 40
    • 0042470319 scopus 로고    scopus 로고
    • Cycling gradient capillary electrophoresis: A low-cost tool for high-throughput analysis of genetic variations
    • Minarik M, Minarikova L, Bjorheim J, Ekstrom PO. Cycling gradient capillary electrophoresis: a low-cost tool for high-throughput analysis of genetic variations. Electrophoresis 24, 1716-1722 (2003).
    • (2003) Electrophoresis , vol.24 , pp. 1716-1722
    • Minarik, M.1    Minarikova, L.2    Bjorheim, J.3    Ekstrom, P.O.4
  • 41
    • 0028945782 scopus 로고
    • Acute intermittent porphyria in Finland: 19 Mutations in the porphobilinogen deaminase gene
    • Kauppinen R, Mustajoki S, Pihlaja H, Peltonen L, Mustajoki P. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. Hum. Mol. Genet. 4, 215-222 (1995).
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 215-222
    • Kauppinen, R.1    Mustajoki, S.2    Pihlaja, H.3    Peltonen, L.4    Mustajoki, P.5
  • 42
    • 0028043680 scopus 로고
    • Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP
    • Schreiber WE, Rozon C, Fong F, Jama A. Detection of polymorphisms and mutations in the porphobilinogen deaminase gene by nonisotopic SSCP. Clin. Chem. 40, 1982-1983 (1994).
    • (1994) Clin. Chem. , vol.40 , pp. 1982-1983
    • Schreiber, W.E.1    Rozon, C.2    Fong, F.3    Jama, A.4
  • 43
    • 0031000605 scopus 로고    scopus 로고
    • Diagnostic strategy genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
    • Nissen H, Petersen NE, Mustajoki S et al. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis. Hum. Mutat. 9, 122-130 (1997).
    • (1997) Hum. Mutat. , vol.9 , pp. 122-130
    • Nissen, H.1    Petersen, N.E.2    Mustajoki, S.3
  • 44
    • 0031973260 scopus 로고    scopus 로고
    • Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria
    • Ong PM, Lanyon WG, Hift RJ et al. Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria. Hum. Hered. 48, 24-29 (1998).
    • (1998) Hum. Hered. , vol.48 , pp. 24-29
    • Ong, P.M.1    Lanyon, W.G.2    Hift, R.J.3
  • 45
    • 0029037656 scopus 로고
    • Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria
    • Schreiber WE, Fong F, Nassar BA, Jamani A. Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria. Hum. Genet. 92, 161-166 (1995).
    • (1995) Hum. Genet. , vol.92 , pp. 161-166
    • Schreiber, W.E.1    Fong, F.2    Nassar, B.A.3    Jamani, A.4
  • 46
    • 0032960380 scopus 로고    scopus 로고
    • Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: Comparison with denaturing gradient gel electrophoresis
    • Tchernitchko D, Lamoril J, Puy H et al. Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis. Clin. Chim. Acta 279, 133-143 (1999).
    • (1999) Clin. Chim. Acta , vol.279 , pp. 133-143
    • Tchernitchko, D.1    Lamoril, J.2    Puy, H.3
  • 47
    • 0037477777 scopus 로고    scopus 로고
    • Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography
    • Fischer J, Schwab M, Eichelbaum M, Zanger UM. Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography Genet. Test. 7, 97-105 (2003).
    • (2003) Genet. Test. , vol.7 , pp. 97-105
    • Fischer, J.1    Schwab, M.2    Eichelbaum, M.3    Zanger, U.M.4
  • 48
    • 0035134704 scopus 로고    scopus 로고
    • Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC
    • Lam CW, Poon PM, Tong SF et al. Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC. Clin. Chem. 47, 343-346 (2001).
    • (2001) Clin. Chem. , vol.47 , pp. 343-346
    • Lam, C.W.1    Poon, P.M.2    Tong, S.F.3
  • 49
    • 0031265411 scopus 로고    scopus 로고
    • Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
    • Mustajoki S, Kauppinen R, Mustajoki P, Suomalainen A, Peltonen L. Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. Genome Res. 7, 1054-1060 (1997).
    • (1997) Genome Res. , vol.7 , pp. 1054-1060
    • Mustajoki, S.1    Kauppinen, R.2    Mustajoki, P.3    Suomalainen, A.4    Peltonen, L.5
  • 50
    • 0038116768 scopus 로고    scopus 로고
    • Molecular diagnostics on electrophoretic microchips
    • Landers JP. Molecular diagnostics on electrophoretic microchips. Ann. Chem. 75, 2919-2927 (2003).
    • (2003) Ann. Chem. , vol.75 , pp. 2919-2927
    • Landers, J.P.1
  • 51
    • 0037379922 scopus 로고    scopus 로고
    • Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based detection of microsatellite instabilities in coding DNA sequences: A novel approach to identify DNA-mismatch repair-deficient cancer cells
    • Bonk T, Humeny A, Gebert J, Sutter C, von Knebel Doeberitz M, Becker CM. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based detection of microsatellite instabilities in coding DNA sequences: a novel approach to identify DNA-mismatch repair-deficient cancer cells. Clin. Chem. 49, 552-561 (2003).
    • (2003) Clin. Chem. , vol.49 , pp. 552-561
    • Bonk, T.1    Humeny, A.2    Gebert, J.3    Sutter, C.4    Von Knebel Doeberitz, M.5    Becker, C.M.6
  • 52
    • 0032993691 scopus 로고    scopus 로고
    • Novel single nucleotide polymorphism (9678G→A) for linkage analysis of acute intermittent porphyria
    • Law WK, Choy KW, Lam CW. Novel single nucleotide polymorphism (9678G→A) for linkage analysis of acute intermittent porphyria. Clin. Chem. 45, 308-309 (1999).
    • (1999) Clin. Chem. , vol.45 , pp. 308-309
    • Law, W.K.1    Choy, K.W.2    Lam, C.W.3
  • 53
    • 78651057641 scopus 로고
    • The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine
    • Mauzerall D, Granick S. The occurrence and determination of δ-aminolevulinic acid and porphobilinogen in urine. J. Biol. Chem. 219, 435-436 (1956).
    • (1956) J. Biol. Chem. , vol.219 , pp. 435-436
    • Mauzerall, D.1    Granick, S.2
  • 54
    • 0021358220 scopus 로고
    • Urine and fecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias
    • Lim CK, Peters TJ. Urine and fecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias. Clin. Chim. Acta 139, 55-63 (1984).
    • (1984) Clin. Chim. Acta , vol.139 , pp. 55-63
    • Lim, C.K.1    Peters, T.J.2
  • 55
    • 0034523829 scopus 로고    scopus 로고
    • The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study
    • Andersson C, Floderus Y, Wikberg A, Lithner F. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study. Scand. J. Clin. Lab. Invest. 60, 643-648 (2000).
    • (2000) Scand. J. Clin. Lab. Invest. , vol.60 , pp. 643-648
    • Andersson, C.1    Floderus, Y.2    Wikberg, A.3    Lithner, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.