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Volumn 98, Issue 2, 2016, Pages 358-362

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

(21)  Kremer, Laura S a,b   Distelmaier, Felix c   Alhaddad, Bader a   Hempel, Maja d   Iuso, Arcangela a,b   Küpper, Clemens e,f,g   Mühlhausen, Chris d   Kovacs Nagy, Reka a   Satanovskij, Robin a   Graf, Elisabeth b   Berutti, Riccardo b   Eckstein, Gertrud b   Durbin, Richard h   Sauer, Sascha i,j   Hoffmann, Georg F k   Strom, Tim M a,b   Santer, René d   Meitinger, Thomas a,b,f   Klopstock, Thomas e,f,g   Prokisch, Holger a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; TRANSPORT AND GOLGI ORGANIZATION 2; UNCLASSIFIED DRUG;

EID: 84957851956     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.12.009     Document Type: Article
Times cited : (75)

References (11)
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    • Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    • R.W. Taylor, A. Pyle, H. Griffin, E.L. Blakely, J. Duff, L. He, T. Smertenko, C.L. Alston, V.C. Neeve, A. Best, and et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies JAMA 312 2014 68 77
    • (2014) JAMA , vol.312 , pp. 68-77
    • Taylor, R.W.1    Pyle, A.2    Griffin, H.3    Blakely, E.L.4    Duff, J.5    He, L.6    Smertenko, T.7    Alston, C.L.8    Neeve, V.C.9    Best, A.10
  • 8
    • 84942929929 scopus 로고    scopus 로고
    • Mitochondrial citrate transporter-dependent metabolic signature in the 22q11.2 deletion syndrome
    • E. Napoli, F. Tassone, S. Wong, K. Angkustsiri, T.J. Simon, G. Song, and C. Giulivi Mitochondrial citrate transporter-dependent metabolic signature in the 22q11.2 deletion syndrome J. Biol. Chem. 290 2015 23240 23253
    • (2015) J. Biol. Chem. , vol.290 , pp. 23240-23253
    • Napoli, E.1    Tassone, F.2    Wong, S.3    Angkustsiri, K.4    Simon, T.J.5    Song, G.6    Giulivi, C.7
  • 10
    • 84890472757 scopus 로고    scopus 로고
    • Regulation of mitochondrial fatty acid β-oxidation in human: What can we learn from inborn fatty acid β-oxidation deficiencies?
    • J. Bastin Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies? Biochimie 96 2014 113 120
    • (2014) Biochimie , vol.96 , pp. 113-120
    • Bastin, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.