Concepedia

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism

Brage Storstein Andresen, Ernst Christensen, Thomas J. Corydon, Peter Bross, B Pilgaard, Ronald J. A. Wanders, Jos P.N. Ruiter, Henrik Toft Simonsen, Vibeke Winter, Inga Knudsen,

The American Journal of Human Genetics · 2000 · 82 citations · 19 references

DOIFull text

Open access

Concepts

References

19

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

Lynne E. Maquat · PubMed · 1995 · 514 citations

, , +16

Statistical features of human exons and their flanking regions

Michael Zhang · Human Molecular Genetics · 1998 · 444 citations

, , +20

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Mohamed S. Rashed, Pinar T. Ozand, Martin P. Bucknall et al. · Pediatric Research · 1995 · 341 citations · Full text

, , +13

Construction of a novel database containing aberrant splicing mutations of mammalian genes

Kenta Nakai, Hiroshi Sakamoto · Gene · 1994 · 329 citations

, , +9

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 · 300 citations · Full text

, , +10