D A Applegarth

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    D A Applegarth
    Department of Pediatrics, University of British Columbia
    Pediatrics 105:e10. 2000
  2. ncbi Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
    D A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, B C, Canada
    Prenat Diagn 20:367-70. 2000
  3. ncbi A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 31:627-32. 1998
  4. ncbi 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 with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Hum Mutat 17:76. 2001
  5. ncbi Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria
    M B Coulter-Mackie
    Department of Pediatrics, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Room 2F22, Vancouver, BC, Canada V6H 3V4
    Mol Genet Metab 74:314-21. 2001
  6. ncbi Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis
    D A Applegarth
    Department of Pediatrics, University of British Columbia, 4480 Oak Street, Vancouver, V6H 3V4, British Columbia
    Mol Genet Metab 74:139-46. 2001
  7. ncbi Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update
    D A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia
    J Inherit Metab Dis 27:417-22. 2004

Detail Information

Publications7

  1. ncbi Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    D A Applegarth
    Department of Pediatrics, University of British Columbia
    Pediatrics 105:e10. 2000
    ..This population provides a relatively unique setting for collection of accurate and uniform incidence data because the diagnoses are all made through one laboratory in a population with universal access to government-funded medical care...
  2. ncbi Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
    D A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, B C, Canada
    Prenat Diagn 20:367-70. 2000
    ..Because of the other two results we now counsel that there is an approximately 1% chance of a pregnancy with a normal CVS activity resulting in an affected child. The clinical and biochemical findings in the three families are discussed...
  3. ncbi A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion
    M B Coulter-Mackie
    Department of Pediatrics, University of British Columbia, Vancouver, Canada
    Clin Biochem 31:627-32. 1998
    ..To develop a protocol capable of identifying deletions in mitochondrial DNA and use it to identify the breakpoints of a mtDNA deletion in a patient with chronic progressive external ophthalmoplegia (CPEO)...
  4. ncbi 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 with nonketotic hyperglycinemia
    J R Toone
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
    Hum Mutat 17:76. 2001
    ..A PCR/restriction enzyme method to detect this mutation was used to screen 100 NKH alleles and identified the mutation in three unrelated families...
  5. ncbi Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria
    M B Coulter-Mackie
    Department of Pediatrics, British Columbia Children s Hospital, University of British Columbia, 4480 Oak Street, Room 2F22, Vancouver, BC, Canada V6H 3V4
    Mol Genet Metab 74:314-21. 2001
    ..All three deletions are heterozygous with previously documented missense mutations; the intron 6 deletion with F152I, the exon 11 deletion with G82E, and EX1 EX5del with the common mistargeting mutation, G170R...
  6. ncbi Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis
    D A Applegarth
    Department of Pediatrics, University of British Columbia, 4480 Oak Street, Vancouver, V6H 3V4, British Columbia
    Mol Genet Metab 74:139-46. 2001
    ..Prenatal diagnosis by GCS assay in chorionic villus biopsies is not completely reliable and will be replaced by molecular analysis in families where the mutations are known...
  7. ncbi Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update
    D A Applegarth
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia
    J Inherit Metab Dis 27:417-22. 2004
    ..This article summarizes data and issues covered in the workshop on Glycine Encephalopathy using headings that cover important topics in our present knowledge of this disease...