Concepedia

Identification and Characterization of Temperature-Sensitive Mild Mutations in Three Japanese Patients with Nonsevere Forms of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

Yuichi Takusa, Toshiyuki Fukao, Masahiko Kimura, Atsushi Uchiyama, Wataru Abo, Yoshio Tsuboi, Shinichi Hirose, Hideki Fujioka, Naomi Kondo, Seiji Yamaguchi

Molecular Genetics and Metabolism · 2002 · 17 citations · 22 references

DOI

Concepts

References

22

Efficient selection for high-expression transfectants with a novel eukaryotic vector

Hitoshi Niwa, Ken‐ichi Yamamura, Jun‐ichi Miyazaki · Gene · 1991 · 5.2K citations

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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 302 citations · Full text

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Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase.

Kaoru Izai, Yasushi Uchida, T Orii et al. · Journal of Biological Chemistry · 1992 · 246 citations · Full text

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Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.

J J Kim, Mei Wang, Rosemary Paschke · Proceedings of the National Academy of Sciences · 1993 · 244 citations

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Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

Arnold W. Strauss, C K Powell, Daniel E. Hale et al. · Proceedings of the National Academy of Sciences · 1995 · 169 citations

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