메뉴 건너뛰기
Inherited Metabolic Diseases: A Clinical Approach
Volumn , Issue , 2010, Pages 161-176
Metabolic myopathies
Author keywords

[No Author keywords available]
Indexed keywords

EID: 84891996857     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-74723-9_20     Document Type: Chapter
Times cited : (2)
References (8)
  • 1
    • 0029865178 scopus 로고    scopus 로고
    • Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression
    • Bonnefont J-P, Taroni F, Cavadini P, et al (1996) Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58:971-978
    • (1996) Am J Hum Genet , vol.58 , pp. 971-978
    • Bonnefont, J.-P.1    Taroni, F.2    Cavadini, P.3
  • 3
    • 34548649779 scopus 로고    scopus 로고
    • Muscle glycogenoses: An overview
    • Di Mauro S (2007) Muscle glycogenoses: an overview. Acta Myol 26:35-41
    • (2007) Acta Myol , vol.26 , pp. 35-41
    • Di Mauro, S.1
  • 4
    • 26944466776 scopus 로고    scopus 로고
    • The expanding phenotype of mitochondrial myopathy
    • Di Mauro S, Gurgel-Giannetti J (2005) The expanding phenotype of mitochondrial myopathy. Curr Opin Neurol 18:538-542
    • (2005) Curr Opin Neurol , vol.18 , pp. 538-542
    • Di Mauro, S.1    Gurgel-Giannetti, J.2
  • 5
    • 0034700807 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
    • Leonard JV, Schapira AH (2000) Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 355:299-304
    • (2000) Lancet , vol.355 , pp. 299-304
    • Leonard, J.V.1    Schapira, A.H.2
  • 6
    • 0034728096 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain disorders II: Neurodegenerative disorders and nuclear gene defects
    • Leonard JV, Schapira AH (2000) Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 355:389-394
    • (2000) Lancet , vol.355 , pp. 389-394
    • Leonard, J.V.1    Schapira, A.H.2
  • 7
    • 84892094946 scopus 로고    scopus 로고
    • Washington University Neuromuscular Disease Center website
    • Pestronk A. Washington University Neuromuscular Disease Center website. http://neuromuscular.wustl.edu
    • Pestronk, A.1
  • 8
    • 0033910749 scopus 로고    scopus 로고
    • A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene
    • Vladutiu GD, Bennett MJ, Smail D et al (2000) A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. Mol Genet Metab 70:134-141
    • (2000) Mol Genet Metab , vol.70 , pp. 134-141
    • Vladutiu, G.D.1    Bennett, M.J.2    Smail, D.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.