메뉴 건너뛰기




Volumn 30, Issue 1, 1999, Pages 12-16

The porphyries

Author keywords

[No Author keywords available]

Indexed keywords

COPROPORPHYRIN; COPROPORPHYRINOGEN OXIDASE; GLUCOSE; HEMATIN; PORPHOBILINOGEN DEAMINASE; PORPHOBILINOGEN SYNTHASE; PROTOPORPHYRIN; UROPORPHYRIN;

EID: 0032947802     PISSN: 01695185     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (19)

References (10)
  • 4
    • 0018692260 scopus 로고
    • New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation
    • Doss M, Von Tiepermann R, Schneider J, Schmid H. New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation. Klin Wochenschr 1979; 57: 1123-7.
    • (1979) Klin Wochenschr , vol.57 , pp. 1123-1127
    • Doss, M.1    Von Tiepermann, R.2    Schneider, J.3    Schmid, H.4
  • 6
    • 0030959246 scopus 로고    scopus 로고
    • Molecular epidemiology and diagnosis of PEG deaminase gene defects in acute intermittent porphyria
    • Puy H, Deybach JC, Lamoril J, Robreau AM, Da Suva V, Gouya L, et al. Molecular epidemiology and diagnosis of PEG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet 1997; 60: 1373-83.
    • (1997) Am J Hum Genet , vol.60 , pp. 1373-1383
    • Puy, H.1    Deybach, J.C.2    Lamoril, J.3    Robreau, A.M.4    Da Suva, V.5    Gouya, L.6
  • 9
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 3213.
    • (1997) Lancet , vol.349 , pp. 3213
    • Roberts, A.G.1    Whatley, S.D.2    Morgan, R.R.3    Worwood, M.4    Elder, G.H.5
  • 10
    • 0027519644 scopus 로고
    • Molecular genetics of disorders of haem biosynthesis
    • Elder GH. Molecular genetics of disorders of haem biosynthesis. J Clin Pathol 1993; 46: 977-81.
    • (1993) J Clin Pathol , vol.46 , pp. 977-981
    • Elder, G.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.