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Volumn 23, Issue 3, 2000, Pages 269-270

Reversible deafness caused by biotinidase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

EID: 0033772706     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(00)00190-9     Document Type: Article
Times cited : (13)

References (15)
  • 2
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    • (abstract)
    • Heard G.S., Wolf B., Reddy J.K. Pancreatic biotinidase activity The potential for intestinal processing of dietary protein bound biotin . (abstract) Pediatr Res. 18:1984;198A.
    • (1984) Pediatr Res , vol.18
    • Heard, G.S.1    Wolf, B.2    Reddy, J.K.3
  • 3
    • 0028858269 scopus 로고
    • Biotinylation of histones by human serum biotinidase: Assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency
    • Hymes J., Fleischhauer K., Wolf B. Biotinylation of histones by human serum biotinidase Assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency . Biochem Molec Med. 56:1995;76-83.
    • (1995) Biochem Molec Med , vol.56 , pp. 76-83
    • Hymes, J.1    Fleischhauer, K.2    Wolf, B.3
  • 4
    • 0032906144 scopus 로고    scopus 로고
    • Human biotinidase isn't just for recycling biotin
    • Hymes J., Wolf B. Human biotinidase isn't just for recycling biotin. J Nutr. 129:1999;485S-489S.
    • (1999) J Nutr , vol.129
    • Hymes, J.1    Wolf, B.2
  • 5
    • 0020513116 scopus 로고
    • Phenotypic variation in biotinidase deficiency
    • Wolf B., Grier R.E., Allen R.J., et al. Phenotypic variation in biotinidase deficiency. J Pediatr. 103:1983;233-237.
    • (1983) J Pediatr , vol.103 , pp. 233-237
    • Wolf, B.1    Grier, R.E.2    Allen, R.J.3
  • 6
    • 0003114965 scopus 로고
    • Disorders of biotin metabolism
    • In: Scriver CR, Beaudet Al, Sly WS, Valle D, eds. New York: McGraw Hill
    • Wolf B. Disorders of biotin metabolism. In: Scriver CR, Beaudet Al, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw Hill, 1995:3151-80.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , pp. 3151-3180
    • Wolf, B.1
  • 7
    • 0020525812 scopus 로고
    • Biotinidase deficiency: The enzymatic defect in late onset multiple carboxylase deficiency
    • Wolf B., Grier R.E., Allen R.J., Goodman S.I., Kein C.L. Biotinidase deficiency The enzymatic defect in late onset multiple carboxylase deficiency . Clin Chim Acta. 131:1983;273-281.
    • (1983) Clin Chim Acta , vol.131 , pp. 273-281
    • Wolf, B.1    Grier, R.E.2    Allen, R.J.3    Goodman, S.I.4    Kein, C.L.5
  • 9
    • 0031890445 scopus 로고    scopus 로고
    • Delayed onset profound biotinidase deficiency
    • Wolf B., Pomponio R.J., Norrgard K.J., et al. Delayed onset profound biotinidase deficiency. J Pediatr. 132:1998;362-365.
    • (1998) J Pediatr , vol.132 , pp. 362-365
    • Wolf, B.1    Pomponio, R.J.2    Norrgard, K.J.3
  • 11
    • 0021846155 scopus 로고
    • Long term auditory and visual complications of biotinidase deficiency
    • Taitz L.S., Leonard J.V., Bartlett K. Long term auditory and visual complications of biotinidase deficiency. Early Hum Dev. 11:1985;325-331.
    • (1985) Early Hum Dev , vol.11 , pp. 325-331
    • Taitz, L.S.1    Leonard, J.V.2    Bartlett, K.3
  • 12
    • 0024429584 scopus 로고
    • Biotinidase deficiency: A congenital metabolic disease which can be successfully treated with vitamin H
    • Nothjunge J., Krageloh-Mann I., Suormala T.M., Baumgartner E.R. Biotinidase deficiency A congenital metabolic disease which can be successfully treated with vitamin H . Monatsschr Kinderheilkd. 137:1989;737-740.
    • (1989) Monatsschr Kinderheilkd , vol.137 , pp. 737-740
    • Nothjunge, J.1    Krageloh-Mann, I.2    Suormala, T.M.3    Baumgartner, E.R.4
  • 13
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    • Metabolic diseases
    • M.C.O. Bax, M. Pountney, P.A. Davies, & P. Chappelle. London: Mac Keith Press
    • Aicardi J. Metabolic diseases. Bax M.C.O., Pountney M., Davies P.A., Chappelle P. Diseases of the nervous system in childhood, 2nd ed. 1998;285-286 Mac Keith Press, London.
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    • Aicardi, J.1
  • 15
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    • Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analysis
    • Pomponio R.J., Hymes J., Pandya A., Landa B., Melone P., Javaheri R. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analysis. Prenat Diagn. 18:1989;117-122.
    • (1989) Prenat Diagn , vol.18 , pp. 117-122
    • Pomponio, R.J.1    Hymes, J.2    Pandya, A.3    Landa, B.4    Melone, P.5    Javaheri, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.