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 · 1.1K citations · Full text

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

Molecular Investigation, Inherited Metabolic Disease, Hematology +3

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 · 48 citations · Full text

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

Genetics, Gcdh Mutations, Human Polymorphism +16

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

Glutaryl-coa Dehydrogenase, Mendelian Disorder, Genetic Disorder +9