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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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 hyperglycinaemia): Review and update von Applegarth, D. A., Toone, J. R.

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The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’ von Scholl-Bürgi, S., Korman, S. H., Applegarth, D. A., Karall, D., Lillquist, Y., Heinz-Erian, P., Davidson, A. G. F., Haberlandt, E., Sass, J. O.

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Nonketotic Hyperglycinemia (Glycine Encephalopathy): Laboratory Diagnosis von 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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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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Early amniocentesis for biochemical genetic prenatal diagnosis von Toone, JR, Applegarth, DA, Vallance, HD, Wilson, RD

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Classical galactosaemia in Chinese: A case report and review of disease incidence von Cheung, KL, Tang, NLS, Hsiao, KJ, Law, LK, Wong, W, Ng, PC, Pang, CP, Applegarth, DA, Fok, TF, Hjelm, NM

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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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Gene Symbol: GLDC. Disease: NKH glycine encephalopathy von Toone, J R, Applegarth, D A, Laliberte, G

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Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene von Coulter-Mackie, M B, Gagnier, L, Beis, M J, Applegarth, D A, Cole, D E, Gordon, K, Ludman, M D

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Structural anomalies in patients with inherited metabolic diseases von Bamforth, F. J., Bamforth, J. S., Applegarth, D. A.

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Measurement of pyruvate dehydrogenase complex (PDHC) in interleukin‐2 (IL‐2) stimulated lymphocytes von Vallance, H. D., Toone, J. R., Applegarth, D. A.

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Prenatal diagnosis of Non‐ketotic hyperglycinaemia von Toone, J. R., Applegarth, D. A., Levy, H. 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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A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient von Choy, Francis Y.M., Wei, Chao, Applegarth, Derek A., Yong, Siu-Li

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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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Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples von Johnson, J. L., Rajagopalan, K. V., Lanman, J. T., Schutgens, R. B. H., Gennip, A. H., Sorensen, P., Applegarth, D. 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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