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Molecular Genetics and Metabolism|December 15, 2007
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting, B Winchester, D Bali, et al.Human Mutation|January 22, 2008
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinaseD P Dimmock, Q Zhang, C Dionisi-Vici, et al.Journal of Inherited Metabolic Disease|December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screeningS C Grünert, S Müllerleile, L de Silva, et al.Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.Journal of Inherited Metabolic Disease|October 29, 2011
Mutation analysis in 54 propionic acidemia patientsJ P Kraus, E Spector, S Venezia, et al.Pageof 6