메뉴 건너뛰기




Volumn 26, Issue 8, 2003, Pages 805-809

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

Author keywords

[No Author keywords available]

Indexed keywords

BIOTINIDASE; CHOLESTEROL; TRIACYLGLYCEROL;

EID: 0942266391     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000009949.65855.4c     Document Type: Article
Times cited : (11)

References (6)
  • 1
    • 0029881143 scopus 로고    scopus 로고
    • Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: Effect of biotin supplementation
    • Burlina AB, Dermikol M, Mantau A, et al (1996) Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation. J Inherit Metab Dis 19: 209-212.
    • (1996) J. Inherit. Metab. Dis. , vol.19 , pp. 209-212
    • Burlina, A.B.1    Dermikol, M.2    Mantau, A.3
  • 2
    • 0000171986 scopus 로고    scopus 로고
    • Glycogen storage diseases
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. McGraw-Hill: New York
    • Chen Y-T (2001) Glycogen storage diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 1521-1551.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 1521-1551
    • Chen, Y.-T.1
  • 3
    • 0008416448 scopus 로고
    • Increased serum biotinidase activity in glycogen storage disease type Ia
    • Hug G, Chuck G, Tsoras M (1994) Increased serum biotinidase activity in glycogen storage disease type Ia. Pediatr Res 35: 203A.
    • (1994) Pediatr. Res. , vol.35
    • Hug, G.1    Chuck, G.2    Tsoras, M.3
  • 5
    • 0003114965 scopus 로고    scopus 로고
    • Disorders of biotin metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. 8th edn. McGraw-Hill: New York
    • Wolf B (2001) Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 3935-3962.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3935-3962
    • Wolf, B.1
  • 6
    • 0020525812 scopus 로고
    • Biotinidase deficiency: The enzymatic defect in late-onset multiple carboxylase deficiency
    • Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL (1983) Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 131: 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    Kien, C.L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.