Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Biology +16

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1

Yuichi Mushimoto, Seiji Fukuda, Yuki Hasegawa et al. · Molecular Genetics and Metabolism · 2010 · 107 citations

Life Sciences, Biochemistry, Molecular Medicine +7

Development of quantitative screen for 1550 chemicals with GC-MS

Alan J. Bergmann, Gary L. Points, Richard P. Scott et al. · Analytical and Bioanalytical Chemistry · 2018 · 49 citations · Full text

Natural Sciences, Chemistry, Toxicology +17

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families

Nelson L.S. Tang, Joannie Hui, L. K. Law et al. · Human Mutation · 2000 · 35 citations

Life Sciences, Genetics, Neurology +13

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

J.F. Martí-Massó, Javier Ruiz‐Martínez, Vladimir Makarov et al. · Human Genetics · 2011 · 30 citations

Life Sciences, Molecular Genetics, Neurology +10