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Human Mutation|July 12, 2002
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblingsMary Anna Carbone, Derek A Applegarth, Brian H Robinson
Molecular Genetics and Metabolism|February 1, 2003
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black AfricansMarion B Coulter-Mackie, Andrew Tung, Howard E Henderson, et al.
Molecular Genetics and Metabolism|September 2, 2003
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)Jennifer R Toone, Derek A Applegarth, Harvey L Levy, et al.
Clinical Biochemistry|February 20, 2008
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of resultsMarion B Coulter-Mackie, Qun Lian, Derek A Applegarth, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|May 31, 2002
Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutationMarion B Coulter-Mackie, Derek A Applegarth, Jennifer R Toone, et al.
Molecular Genetics and Metabolism|July 20, 2002
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)Jennifer R Toone, Derek A Applegarth, Shigeo Kure, et al.
Clinical Biochemistry|March 14, 2003
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiencyNelson L S Tang, Joannie Hui, Collin K K Yong, et al.
Annals of Neurology|July 17, 2015
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemiaMichael A Swanson, Curtis R Coughlin, Gunter H Scharer, et al.
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