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American Journal of Human Genetics
Volumn 58, Issue 5, 1996, Pages 971-978
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression
Author keywords

[No Author keywords available]
Indexed keywords

AMINO ACID; CARNITINE PALMITOYLTRANSFERASE; COMPLEMENTARY DNA; CREATINE KINASE; DNA; LACTATE DEHYDROGENASE; LEUCINE; LONG CHAIN FATTY ACID; RNA; SERINE;
EID: 0029865178     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (90)
References (5)
  • 1
    • 0016862854 scopus 로고
    • A disorder of muscle lipid metabolism and myoglobinuria: Absence of carnitine palmityltransferase
    • Bank WJ, Di Mauro S, Bonilla E, Capuzzi DM, Rowland LP (1975) A disorder of muscle lipid metabolism and myoglobinuria: absence of carnitine palmityltransferase. N Engl J Med 292:443-449
    • (1975) N Engl J Med , vol.292 , pp. 443-449
    • Bank, W.J.1    Di Mauro, S.2    Bonilla, E.3    Capuzzi, D.M.4    Rowland, L.P.5
  • 3
    • 0025694816 scopus 로고
    • The fasting test in pediatrics: Application to the diagnosis of pathological hypoketotic and hyperketotic states
    • Bonnefont JP, Specola N, Vassault A, Lombes A, Ogier H, Deklerk J, Munnich A, et al (1990) The fasting test in pediatrics: application to the diagnosis of pathological hypoketotic and hyperketotic states. Eur J Pediatr 150:80-85
    • (1990) Eur J Pediatr , vol.150 , pp. 80-85
    • Bonnefont, J.P.1    Specola, N.2    Vassault, A.3    Lombes, A.4    Ogier, H.5    Deklerk, J.6    Munnich, A.7
  • 4
    • 0024473260 scopus 로고
    • Normal muscle CPT I and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts: Tissue specific isoforms of CPT I?
    • Tein I, Demaugre F, Bonnefont JP, Saudubray JM (1989) Normal muscle CPT I and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts: tissue specific isoforms of CPT I? J Neurol Sci 92:229-245
    • (1989) J Neurol Sci , vol.92 , pp. 229-245
    • Tein, I.1    Demaugre, F.2    Bonnefont, J.P.3    Saudubray, J.M.4
  • 5
    • 0002662164 scopus 로고
    • Carnitine palmitoyltransferase deficiency
    • Engel AG, Franzini-Armstrong C (eds) McGraw-Hill, New York
    • Zierz S (1994) Carnitine palmitoyltransferase deficiency. In: Engel AG, Franzini-Armstrong C (eds) Myology, 2d ed. McGraw-Hill, New York, pp 1577-1586
    • (1994) Myology, 2d Ed. , pp. 1577-1586
    • Zierz, S.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.