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Volumn 14, Issue 1, 2014, Pages 26-33

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

(32)  Parikh, Sumit ab   Goldstein, Amy ac   Koenig, Mary Kay ad   Scaglia, Fernando ae   Enns, Gregory M af   Saneto, Russell ag   Anselm, Irina a   Collins, Abigail b   Cohen, Bruce H c   DeBrosse, Suzanne D d,e   Dimmock, David f   Falk, Marni J g,h   Ganesh, Jaya g   Greene, Carol i   Gropman, Andrea L j,k   Haas, Richard l   Kahler, Stephen G m   Kamholz, John n   Kendall, Fran o   Korson, Mark S p   more..


Author keywords

Clinical guidelines; Mitochondrial disease; Mitochondrial medicine

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA; UBIDECARENONE;

EID: 84892950814     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.07.116     Document Type: Article
Times cited : (36)

References (21)
  • 4
    • 20344366079 scopus 로고    scopus 로고
    • Mitochondrial DNA and disease
    • Dimauro S., Davidzon G. Mitochondrial DNA and disease. Ann. Med. 2005, 37:222-232.
    • (2005) Ann. Med. , vol.37 , pp. 222-232
    • Dimauro, S.1    Davidzon, G.2
  • 6
    • 33748162727 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients
    • Garcia-Cazorla A., De Lonlay P., Rustin P., Chretien D., Touati G., Rabier D., Slama A., Saudubray J.M. Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients. J. Pediatr. 2006, 149:401-405.
    • (2006) J. Pediatr. , vol.149 , pp. 401-405
    • Garcia-Cazorla, A.1    De Lonlay, P.2    Rustin, P.3    Chretien, D.4    Touati, G.5    Rabier, D.6    Slama, A.7    Saudubray, J.M.8
  • 7
    • 77956249894 scopus 로고    scopus 로고
    • Autism and mitochondrial disease
    • Haas R.H. Autism and mitochondrial disease. Dev. Disabil. Res. Rev. 2010, 16:144-153.
    • (2010) Dev. Disabil. Res. Rev. , vol.16 , pp. 144-153
    • Haas, R.H.1
  • 11
    • 84856353116 scopus 로고    scopus 로고
    • Blue native polyacrylamide gel electrophoresis: a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation
    • Leary S.C. Blue native polyacrylamide gel electrophoresis: a powerful diagnostic tool for the detection of assembly defects in the enzyme complexes of oxidative phosphorylation. Methods Mol. Biol. 2012, 837:195-206.
    • (2012) Methods Mol. Biol. , vol.837 , pp. 195-206
    • Leary, S.C.1
  • 12
    • 78651126508 scopus 로고
    • A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study
    • LUFT R., IKKOS D., PALMIERI G., ERNSTER L., AFZELIUS B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J. Clin. Invest. 1962, 41:1776-1804.
    • (1962) J. Clin. Invest. , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3    Ernster, L.4    Afzelius, B.5
  • 14
    • 84883243218 scopus 로고
    • SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
    • University of Washington, Seattle, Seattle (WA), R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.)
    • Ostergaard E. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria. Gene reviews 1993, University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
    • (1993) Gene reviews
    • Ostergaard, E.1
  • 15
    • 24744439476 scopus 로고    scopus 로고
    • The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease
    • Panetta J., Gibson K., Kirby D.M., Thorburn D.R., Boneh A. The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease. Neuropediatrics 2005, 36:256-259.
    • (2005) Neuropediatrics , vol.36 , pp. 256-259
    • Panetta, J.1    Gibson, K.2    Kirby, D.M.3    Thorburn, D.R.4    Boneh, A.5
  • 21
    • 0037069274 scopus 로고    scopus 로고
    • Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children
    • Wolf N.I., Smeitink J.A. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 2002, 59:1402-1405.
    • (2002) Neurology , vol.59 , pp. 1402-1405
    • Wolf, N.I.1    Smeitink, J.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.