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Results: 1-11 |
Results: 11
Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis
Authors: Applegarth, DA Toone, JR
Citation: Da. Applegarth et Jr. Toone, Nonketotic hyperglycinemia (glycine encephalopathy): Laboratory diagnosis, MOL GEN MET, 74(1-2), 2001, pp. 139-146
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N1451): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)
Authors: Toone, JR Applegarth, DA Coulter-Mackie, MB James, ER
Citation: Jr. Toone et al., Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N1451): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH), MOL GEN MET, 72(4), 2001, pp. 322-325
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
Authors: Chinnery, PF Brown, DT Andrews, RM Singh-Kler, R Riordan-Eva, P Lindley, J Applegarth, DA Turnbull, DM Howell, N
Citation: Pf. Chinnery et al., The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy, BRAIN, 124, 2001, pp. 209-218
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia
Authors: Toone, JR Applegarth, DA Coulter-Mackie, MB James, ER
Citation: Jr. Toone et al., Biochemical and molecular investigations of patients with nonketotic hyperglycinemia, MOL GEN MET, 70(2), 2000, pp. 116-121
Glycine cleavage enzyme complex: Rabbit H-protein cDNA sequence analysis and comparison to human, cow, and chicken
Authors: Choy, F Sharp, L Applegarth, DA
Citation: F. Choy et al., Glycine cleavage enzyme complex: Rabbit H-protein cDNA sequence analysis and comparison to human, cow, and chicken, BIOC CELL B, 78(6), 2000, pp. 725-730
Non-concordance of CVS and liver glycine cleavage enzyme in three familieswith non-ketotic hyperglycinaemia (NKH) leading to false negative prenataldiagnoses
Authors: Applegarth, DA Toone, JR Rolland, MO Black, SH Yim, DKC Bemis, G
Citation: Da. Applegarth et al., Non-concordance of CVS and liver glycine cleavage enzyme in three familieswith non-ketotic hyperglycinaemia (NKH) leading to false negative prenataldiagnoses, PRENAT DIAG, 20(5), 2000, pp. 367-370
Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria
Authors: Randak, C Roschinger, W Rolinski, B Hadorn, HB Applegarth, DA Roscher, AA
Citation: C. Randak et al., Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria, J INH MET D, 23(5), 2000, pp. 520-522
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
Authors: Applegarth, DA Toone, JR Lowry, RB
Citation: Da. Applegarth et al., Incidence of inborn errors of metabolism in British Columbia, 1969-1996, PEDIATRICS, 105(1), 2000, pp. I1-I6
Classical galactosaemia in Chinese: A case report and review of disease incidence
Authors: Cheung, KL Tang, NLS Hsiao, KJ Law, LK Wong, W Ng, PC Pang, CP Applegarth, DA Fok, TF Hjelm, NM
Citation: Kl. Cheung et al., Classical galactosaemia in Chinese: A case report and review of disease incidence, J PAEDIAT C, 35(4), 1999, pp. 399-400
Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio
Authors: Jackson, AH Applegarth, DA Toone, JR Kure, S Levy, HL
Citation: Ah. Jackson et al., Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio, J CHILD NEU, 14(7), 1999, pp. 464-467
A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion
Authors: Coulter-Mackie, MB Applegarth, DA Toone, JR Gagnier, L
Citation: Mb. Coulter-mackie et al., A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion, CLIN BIOCH, 31(8), 1998, pp. 627-632
Risultati: 1-11 |