Long chain L-3-hydroxyacyl CoA dehydrogenase – (trifunctional protein deficiency)
Author:
Publisher
CRC Press
Link
http://www.crcnetbase.com/doi/pdf/10.1201/b15310-45
Reference24 articles.
1. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
2. Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene
3. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients
4. Den Boer MEJ, Dionisl-Vici C, Chakrapani A Mitochondrial 27. Schaefer J, Jackson S, Dick D, Turnbull DM. Trifunctional trifunctional protein deficiency: a severe fatty acid oxidation enzyme deficiency: adult presentation of a usually fatal disorder with cardiac and neurologic involvement. J Pediatr b-oxidation defect. Proc SSIEM 1996; 34: 103. 2003; 142: 684. 28.Purevsuren J, Fukao T, Hasegawa Y et al. Clinical and molecular
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