Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711805
Reference4 articles.
1. Moon A, Rhead WJ (1987) Complementation analysis of fatty acid oxidation disorders.J Clin Invest 79: 59?64.
2. Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block.J Clin Invest 91: 1247?1252.
3. Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM (1989) Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.Hum Genet 81: 175?181.
4. Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP (1992) A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.N Engl J Med 327: 19?23.
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