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Volumn 58, Issue 1, 1996, Pages 46-51

Improved detection of the G1528C mutation in LCHAD deficiency

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; DNA FRAGMENT;

EID: 0030175947     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1996.0031     Document Type: Article
Times cited : (10)

References (22)
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    • Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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    • Long-chain 3-hydroxyacyl-coenzyme a dehydrogenese deficiency - Diagnosis, plasma carnitine fractions and management in a further patient
    • 11. Moore R, Glasgow JFT, Bingham MA, Dodge JA, Pollitt RJ, Olpin SE, Middleton B, Carpenter K. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenese deficiency - diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 152:433-436, 1993.
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    • Moore, R.1    Glasgow, J.F.T.2    Bingham, M.A.3    Dodge, J.A.4    Pollitt, R.J.5    Olpin, S.E.6    Middleton, B.7    Carpenter, K.8
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    • 12. Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267:1034-1041, 1992.
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    • Uchida, Y.1    Izai, K.2    Orii, T.3    Hashimoto, T.4
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    • Structural analysis of cDNA for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein
    • 13. Kamijo T, Aoyama T, Komiyama A, Hashimoto T. Structural analysis of cDNA for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein. Biochem Biophys Res Commun 199:818-825, 1994.
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    • Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.