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Volumn 260, Issue 1-2, 2007, Pages 231-235

Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment

Author keywords

Acute intermittent porphyria; Genetic study; Hematin therapy; Peripheral neuropathy

Indexed keywords

HEMATIN; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE;

EID: 34547689022     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.03.018     Document Type: Article
Times cited : (21)

References (25)
  • 1
    • 0030987819 scopus 로고    scopus 로고
    • The little imitator - porphyria: a neuropsychiatric disorder
    • Crimlisk H.L. The little imitator - porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 62 (1997) 319-328
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 319-328
    • Crimlisk, H.L.1
  • 2
    • 0014703261 scopus 로고
    • Acute intermittent porphyria. A clinical and biochemical study of 46 patients
    • Stein J.A., and Tschudy D.P. Acute intermittent porphyria. A clinical and biochemical study of 46 patients. Medicine 49 (1970) 1-16
    • (1970) Medicine , vol.49 , pp. 1-16
    • Stein, J.A.1    Tschudy, D.P.2
  • 3
    • 0017184454 scopus 로고
    • Hereditary hepatic porphyrias in Finland
    • Mustajoki P., and Koskelo P. Hereditary hepatic porphyrias in Finland. Acta Med Scand 200 (1976) 171-178
    • (1976) Acta Med Scand , vol.200 , pp. 171-178
    • Mustajoki, P.1    Koskelo, P.2
  • 5
    • 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 N.E., Mustajoki S., Hansen T.S., Mustajoki P., Kauppinen R., et al. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis. Hum Mutat 9 (1997) 122-130
    • (1997) Hum Mutat , vol.9 , pp. 122-130
    • Nissen, H.1    Petersen, N.E.2    Mustajoki, S.3    Hansen, T.S.4    Mustajoki, P.5    Kauppinen, R.6
  • 6
    • 0024116363 scopus 로고
    • Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria
    • Lee F.Y., Hsiao K.J., Tsai Y.T., Lee S.D., Wu S.J., and Jeng H.S. Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria. J Formos Med Assoc 87 (1988) 1029-1035
    • (1988) J Formos Med Assoc , vol.87 , pp. 1029-1035
    • Lee, F.Y.1    Hsiao, K.J.2    Tsai, Y.T.3    Lee, S.D.4    Wu, S.J.5    Jeng, H.S.6
  • 8
    • 0027409758 scopus 로고
    • Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene
    • Yoo H.W., Warner C.A., Chen C.H., and Desnick R.J. Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 15 (1993) 21-29
    • (1993) Genomics , vol.15 , pp. 21-29
    • Yoo, H.W.1    Warner, C.A.2    Chen, C.H.3    Desnick, R.J.4
  • 9
    • 34547721648 scopus 로고    scopus 로고
    • Human Gene Mutation Database. htt://www.hgmd.org/ (accessed August 7. 2006).
  • 10
    • 0014545842 scopus 로고
    • The neuropathy of acute intermittent porphyria
    • Ridley A. The neuropathy of acute intermittent porphyria. Q J Med 38 (1969) 307-333
    • (1969) Q J Med , vol.38 , pp. 307-333
    • Ridley, A.1
  • 11
    • 0009667484 scopus 로고
    • Porphyric neuropathy
    • Dyck P.J., Thomas P.K., Lambert E.H., and Bunge R. (Eds), WB Saunders, Philadelphia
    • Ridley A. Porphyric neuropathy. In: Dyck P.J., Thomas P.K., Lambert E.H., and Bunge R. (Eds). Peripheral Neuropathy (1984), WB Saunders, Philadelphia 1704-1716
    • (1984) Peripheral Neuropathy , pp. 1704-1716
    • Ridley, A.1
  • 12
    • 0017328230 scopus 로고
    • Electromyogram and nerve conduction in patients with acute intermittent porphyria
    • Flugel K.A., and Druschky K.F. Electromyogram and nerve conduction in patients with acute intermittent porphyria. J Neurol 214 (1977) 267-279
    • (1977) J Neurol , vol.214 , pp. 267-279
    • Flugel, K.A.1    Druschky, K.F.2
  • 13
    • 0018118333 scopus 로고
    • Electrodiagnostic findings in acute porphyric neuropathy
    • Albers J.W., Robertson Jr. W.C., and Daube J.R. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve 1 (1978) 292-296
    • (1978) Muscle Nerve , vol.1 , pp. 292-296
    • Albers, J.W.1    Robertson Jr., W.C.2    Daube, J.R.3
  • 14
    • 0037046215 scopus 로고    scopus 로고
    • Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation
    • King P.H., Petersen N.E., Rakhra R., and Schreiber W.E. Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation. Neurology 58 (2002) 1118-1121
    • (2002) Neurology , vol.58 , pp. 1118-1121
    • King, P.H.1    Petersen, N.E.2    Rakhra, R.3    Schreiber, W.E.4
  • 15
    • 84882813828 scopus 로고    scopus 로고
    • Porphyric neuropathy
    • Dyck P.J., and Thomas P.K. (Eds), Elsevier Saunders, Philadelphia
    • Windebank A.J., and Bonkovsky H.L. Porphyric neuropathy. In: Dyck P.J., and Thomas P.K. (Eds). Peripheral Neuropathy (2005), Elsevier Saunders, Philadelphia 1883-1892
    • (2005) Peripheral Neuropathy , pp. 1883-1892
    • Windebank, A.J.1    Bonkovsky, H.L.2
  • 17
    • 12344254822 scopus 로고    scopus 로고
    • Porphyrias
    • Kauppinen R. Porphyrias. Lancet 365 (2005) 15-21
    • (2005) Lancet , vol.365 , pp. 15-21
    • Kauppinen, R.1
  • 19
    • 4644269324 scopus 로고    scopus 로고
    • Porphyric neuropathy
    • Albers J.W., and Fink J.K. Porphyric neuropathy. Muscle Nerve 30 (2004) 410-422
    • (2004) Muscle Nerve , vol.30 , pp. 410-422
    • Albers, J.W.1    Fink, J.K.2
  • 20
    • 0016856125 scopus 로고
    • Hematin and porphyria
    • Watson C.J. Hematin and porphyria. N Engl J Med 293 (1975) 605-607
    • (1975) N Engl J Med , vol.293 , pp. 605-607
    • Watson, C.J.1
  • 21
    • 0019410148 scopus 로고
    • Brain δ-aminolaevulinate synthase. Developmental aspects and evidence for regulatory role
    • De Matteis F., Zetterlund P., and Wetterberg L. Brain δ-aminolaevulinate synthase. Developmental aspects and evidence for regulatory role. Biochemic J 196 (1981) 811-817
    • (1981) Biochemic J , vol.196 , pp. 811-817
    • De Matteis, F.1    Zetterlund, P.2    Wetterberg, L.3
  • 22
    • 84882839419 scopus 로고    scopus 로고
    • Metal neuropathy
    • Dyck P.J., and Thomas P.K. (Eds), Elsevier Saunders, Philadelphia
    • Windeband A.J. Metal neuropathy. In: Dyck P.J., and Thomas P.K. (Eds). Peripheral Neuropathy (2005), Elsevier Saunders, Philadelphia 2527-2551
    • (2005) Peripheral Neuropathy , pp. 2527-2551
    • Windeband, A.J.1
  • 23
    • 7744243502 scopus 로고    scopus 로고
    • Acute intermittent porphyria: studies of the severe homozygous dominant disease provide insights into the neurologic attacks in acute porphyrias
    • Solis C., Martinez-Bermejo A., Naidich T.P., Kaufmann W.E., Astrin K.H., Bishop D.F., et al. Acute intermittent porphyria: studies of the severe homozygous dominant disease provide insights into the neurologic attacks in acute porphyrias. Arch Neurol 61 (2004) 1764-1770
    • (2004) Arch Neurol , vol.61 , pp. 1764-1770
    • Solis, C.1    Martinez-Bermejo, A.2    Naidich, T.P.3    Kaufmann, W.E.4    Astrin, K.H.5    Bishop, D.F.6
  • 24
    • 0030069657 scopus 로고    scopus 로고
    • Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria
    • Lindberg R.L., Porcher C., Grandchamp B., Ledermann B., Burki K., Brandner S., et al. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet 12 (1996) 195-199
    • (1996) Nat Genet , vol.12 , pp. 195-199
    • Lindberg, R.L.1    Porcher, C.2    Grandchamp, B.3    Ledermann, B.4    Burki, K.5    Brandner, S.6
  • 25
    • 0033560646 scopus 로고    scopus 로고
    • Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria
    • Lindberg R.L., Martini R., Baumgartner M., Erne B., Borg J., Zielasek J., et al. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. J Clin Invest 103 (1999) 1127-1134
    • (1999) J Clin Invest , vol.103 , pp. 1127-1134
    • Lindberg, R.L.1    Martini, R.2    Baumgartner, M.3    Erne, B.4    Borg, J.5    Zielasek, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.