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Volumn 39, Issue 12, 1997, Pages 830-831

Late presentation of biotinidase deficiency with acute visual loss and gait disturbance

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE;

EID: 0031449290     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1997.tb07552.x     Document Type: Article
Times cited : (29)

References (9)
  • 3
    • 0029114718 scopus 로고
    • Mutational hotspot in the human biotinidase gene causes profound biotinidawe deficiency
    • Pomponio RJ, Reynolds TR, Cole H, Buck GA, Wolf B. (1995) Mutational hotspot in the human biotinidase gene causes profound biotinidawe deficiency. Nature Genetics 11:96-8.
    • (1995) Nature Genetics , vol.11 , pp. 96-98
    • Pomponio, R.J.1    Reynolds, T.R.2    Cole, H.3    Buck, G.A.4    Wolf, B.5
  • 5
    • 0027284830 scopus 로고
    • Ophthalmologic finding in biotinidase deficiency
    • Salbert BA, Astruc J, Wolf B. (1993) Ophthalmologic finding in biotinidase deficiency. Ophthalmologica 206:177-81.
    • (1993) Ophthalmologica , vol.206 , pp. 177-181
    • Salbert, B.A.1    Astruc, J.2    Wolf, B.3
  • 6
    • 0019855863 scopus 로고
    • Two forms of biotin-responsive multiple carboxyla4se deficiency
    • Sweetman L. (1981) Two forms of biotin-responsive multiple carboxyla4se deficiency. Journal of Inherited Metabolic Diseases 4:53-4.
    • (1981) Journal of Inherited Metabolic Diseases , vol.4 , pp. 53-54
    • Sweetman, L.1
  • 7
    • 0026070047 scopus 로고
    • Worldwide survey of neonatal screening for biot in iclaso deficiency
    • Wolf B. (1991) Worldwide survey of neonatal screening for biot in iclaso deficiency. Journal of Inherited Metabolic Diseases14:923-7.
    • (1991) Journal of Inherited Metabolic Diseases , vol.14 , pp. 923-927
    • Wolf, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.