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

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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy von Chinnery, P. F., Brown, D. T., Andrews, R. M., Singh-Kler, R., Riordan-Eva, P., Lindley, J., Applegarth, D. A., Turnbull, D. M., Howell, N.

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

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Early amniocentesis for biochemical genetic prenatal diagnosis von Toone, JR, Applegarth, DA, Vallance, HD, Wilson, RD

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Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings von Carbone, Mary Anna, Applegarth, Derek A., Robinson, Brian H.

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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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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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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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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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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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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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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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A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency von Tang, Nelson L.S., Hui, Joannie, Yong, Collin K.K., Wong, Lawrence T.K., Applegarth, Derek A., Vallance, Hilary D., Law, L.K., Fung, Simon L.M., Mak, Tony W.L., Sung, Y.M., Cheung, K.L., Fok, T.F.

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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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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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Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria von Randak, C., Röschinger, W., Rolinski, B., Hadorn, H.‐B., Applegarth, D. A., Roscher, A. A.

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An update on the frequency of mucopolysaccharide syndromes in British Columbia von Lowry, R B, Applegarth, D A, Toone, J R, MacDonald, E, Thunem, N Y

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