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Volumn 333, Issue 2, 2003, Pages 203-207

The porphyrias, appropriate test selection

Author keywords

Genetics; Mutation; Plasma porphyrins; Porphobilinogen deaminase; Porphyrias; Porphyrins

Indexed keywords

AMINOLEVULINIC ACID; PORPHOBILINOGEN; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

EID: 0037783955     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(03)00187-6     Document Type: Conference Paper
Times cited : (19)

References (11)
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    • The porphyrias
    • Schmid R. The porphyrias. Semin. Liver Dis. 18:1998;1-101.
    • (1998) Semin. Liver Dis. , vol.18 , pp. 1-101
    • Schmid, R.1
  • 3
    • 0031953448 scopus 로고    scopus 로고
    • The porphyrias
    • Paslin D. The porphyrias. Clin. Dermatol. 16:1998;185-315.
    • (1998) Clin. Dermatol. , vol.16 , pp. 185-315
    • Paslin, D.1
  • 5
    • 0032030899 scopus 로고    scopus 로고
    • Enzyme assays in the porphyrias: Which tissue and when indicated?
    • Hindmarsh J.T. Enzyme assays in the porphyrias: which tissue and when indicated? Clin. Dermatol. 16:1998;245-250.
    • (1998) Clin. Dermatol. , vol.16 , pp. 245-250
    • Hindmarsh, J.T.1
  • 6
    • 0031767479 scopus 로고    scopus 로고
    • Exon 1 donor splice mutations in the porphobilinogen deaminase gene in the non-erythroid variant of acute intermittent porphyria
    • Puy Y., Gross U., Deybach J.C.et al. Exon 1 donor splice mutations in the porphobilinogen deaminase gene in the non-erythroid variant of acute intermittent porphyria. Hum. Genet. 103:1998;570-575.
    • (1998) Hum. Genet. , vol.103 , pp. 570-575
    • Puy, Y.1    Gross, U.2    Deybach, J.C.3
  • 10
    • 0033389833 scopus 로고    scopus 로고
    • New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria
    • Gross U., Puy Y., Doss M.et al. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. Mol. Cell Probes. 13:1999;443-447.
    • (1999) Mol. Cell Probes , vol.13 , pp. 443-447
    • Gross, U.1    Puy, Y.2    Doss, M.3
  • 11
    • 0036481423 scopus 로고    scopus 로고
    • Functional studies of mutations in the protoporphyrinogen oxidase gene in variegate porphyria
    • Morgan R.R., Da S.V., Puy Y., Deybach J.C., Elder G.H. Functional studies of mutations in the protoporphyrinogen oxidase gene in variegate porphyria. Cell. Mol. Biol. (Noisy-le-grand). 48:2002;79-82.
    • (2002) Cell. Mol. Biol. (Noisy-le-grand) , vol.48 , pp. 79-82
    • Morgan, R.R.1    Da, S.V.2    Puy, Y.3    Deybach, J.C.4    Elder, G.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.