Incidence of Inborn Errors of Metabolism in British Columbia, 1969-1996 von Applegarth, Derek A, Toone, Jennifer R, Lowry, RT{section}, and R. Brian

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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia von Swanson, Michael A., Coughlin Jr, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon-Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.

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Glycine encephalopathy (nonketotic hyperglycinemia): Comments and speculations von Applegarth, Derek A., Toone, Jennifer R.

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Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis von Applegarth, Derek A., Toone, Jennifer R.

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The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1 von Coulter-Mackie, Marion B, Applegarth, Derek, Toone, Jennifer R, Henderson, Howard

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Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH) von Toone, Jennifer R, Applegarth, Derek A, Levy, Harvey L, Coulter-Mackie, Marion B, Lee, Gary

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The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans von Coulter-Mackie, Marion B, Tung, Andrew, Henderson, Howard E, Toone, Jennifer R, Applegarth, Derek A

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Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia) von Toone, Jennifer R., Applegarth, Derek A., Kure, Shigeo, Coulter-Mackie, Marion B., Sazegar, Payam, Kojima, Kanako, Ichinohe, Akiko

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Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families w... von Toone, Jennifer R., Applegarth, Derek A., Coulter-Mackie, Marion B., James, Erick R.

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Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia von Swanson, Michael A, Coughlin, Curtis R, Scharer, Gunter H, Szerlong, Heather J, Bjoraker, Kendra J, Spector, Elaine B, Creadon-Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B, Applegarth, Derek A, Toone, Jennifer R, Tong, Suhong, Williams, Kristina, Van Hove, Johan L.K

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Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy) von Applegarth, Derek A., Rolland, Marie-Odile, Toone, Jennifer R., Coulter-Mackie, Marion, Saura, Robert

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A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion von Coulter-Mackie, Marion B, Applegarth, Derek A, Toone, Jennifer R, Gagnier, Liane

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Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio von Jackson, Anthony H., Applegarth, Derek A., Toone, Jennifer R., Kure, Shigeo, Levy, Harvey L.

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Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia von Toone, Jennifer R., Applegarth, Derek A., Coulter-Mackie, Marion B., James, Erick R.

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Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketo... von Toone, Jennifer R., Applegarth, Derek A., Coulter-Mackie, Marion B., James, Erick R.

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Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria von Coulter-Mackie, Marion B., Rumsby, Gillian, Applegarth, Derek A., Toone, Jennifer R.

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Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations von Steiner, Robert D., Sweetser, David A., Rohrbaugh, James R., Dowton, S.Bruce, Toone, Jennifer R., Applegarth, Derek A.

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Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency von WONG, L. T. K, DAVIDSON, A. G. F, APPLEGARTH, D. A, DIMMICK, J. E, NORMAN, M. G, TOONE, J. R, PIRIE, G, WONG, J

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Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses von Applegarth, Derek A., Toone, Jennifer R., Rolland, Marie O., Black, Susan H., Yim, Dwight K. C., Bemis, Gardner

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Micromethod for the assay of glutamate: glyoxylate aminotransferase and modifications of a micromethod for the assay of alanine: glyoxylate aminotransferase. Implications for the p... von Toone, Jennifer R., Applegarth, Derek A.

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