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Volumn 43, Issue 6, 2008, Pages 767-768

Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance

Author keywords

[No Author keywords available]

Indexed keywords

BACITRACIN; CARNITINE; GLYCINE; INFUSION FLUID; ISOVALERIC ACID; ISOVALERYL COENZYME A DEHYDROGENASE; LACTULOSE; NEOMYCIN;

EID: 45749142542     PISSN: 00365521     EISSN: 15027708     Source Type: Journal    
DOI: 10.1080/00365520801912128     Document Type: Letter
Times cited : (5)

References (5)
  • 1
    • 33751051820 scopus 로고    scopus 로고
    • The aetiology of neurological complications of organic acidemias: A role of blood brain barrier
    • Kolker S, Sauer SW, Surtees RAH, Leonard JV. The aetiology of neurological complications of organic acidemias: a role of blood brain barrier. J Inherit Met Dis 2006;29:701-4.
    • (2006) J Inherit Met Dis , vol.29 , pp. 701-704
    • Kolker, S.1    Sauer, S.W.2    Surtees, R.A.H.3    Leonard, J.V.4
  • 2
    • 8844230268 scopus 로고    scopus 로고
    • A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
    • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Human Genet 2004;75:1136-42.
    • (2004) Am J Human Genet , vol.75 , pp. 1136-1142
    • Ensenauer, R.1    Vockley, J.2    Willard, J.M.3    Huey, J.C.4    Sass, J.O.5    Edland, S.D.6
  • 3
    • 33646533134 scopus 로고    scopus 로고
    • Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
    • Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006;142:95-103.
    • (2006) Am J Med Genet C Semin Med Genet , vol.142 , pp. 95-103
    • Vockley, J.1    Ensenauer, R.2
  • 4
    • 0018180436 scopus 로고
    • Isovaleric acidemia: Use of glycine therapy in neonates
    • Cohn RM, Yudkoff R, Rothman R, Segal S. Isovaleric acidemia: use of glycine therapy in neonates. N Engl J Med 1978;299:996-9.
    • (1978) N Engl J Med , vol.299 , pp. 996-999
    • Cohn, R.M.1    Yudkoff, R.2    Rothman, R.3    Segal, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.