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Volumn 29, Issue 6, 1998, Pages 322-323

Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients

Author keywords

Dihydropteridine reductase deficiency; Juvenile fluctuating and progressive encephalopathy

Indexed keywords

DIHYDROPTERIDINE REDUCTASE;

EID: 0032412408     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973586     Document Type: Article
Times cited : (9)

References (3)
  • 1
    • 0023002087 scopus 로고
    • Genetic analysis of partial dihydrobiopterine reductase deficiency in families \vith mental retardation
    • Armstrong, R. A., Saliota, A., Blair, I. A., Colicn, B. E. Genetic analysis of partial dihydrobiopterine reductase deficiency in families \vith mental retardation. J. Inner. Metab. Dis. 9, 400-405 (1986).
    • (1986) J. Inner. Metab. Dis. , vol.9 , pp. 400-405
    • Armstrong, R.A.1    Saliota, A.2    Blair, I.A.3    Colicn, B.E.4
  • 2
    • 0026621859 scopus 로고
    • Mesure de l'activité dihydroptéridine réductase sur éluat de sang seché: Implications physiologiques et pathologiques
    • Dlioncit, I. L. Mesure de l'activité dihydroptéridine réductase sur éluat de sang seché: Implications physiologiques et pathologiques. Ann. Biol. Clin. 50, 653-658 (1992).
    • (1992) Ann. Biol. Clin. , vol.50 , pp. 653-658
    • Dlioncit, I.L.1
  • 3
    • 0031761337 scopus 로고    scopus 로고
    • Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: Clinical, biochemical and neuropathological findings
    • Miladi, N., Larnaoul, A., Dlmndt, I. L., Vincent, M. F., Knabcicln, N., Hentati, F. Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: Clinical, biochemical and neuropathological findings. Accepted in J. Child. Neurol.
    • J. Child. Neurol.
    • Miladi, N.1    Larnaoul, A.2    Dlmndt, I.L.3    Vincent, M.F.4    Knabcicln, N.5    Hentati, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.