D A Applegarth
Affiliation: University of British Columbia
- Incidence of inborn errors of metabolism in British Columbia, 1969-1996D 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...
- Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnosesD 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...
- A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletionM 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)...
- 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 hyperglycinemiaJ 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...
- Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluriaM 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...
- Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosisD 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...
- Glycine encephalopathy (nonketotic hyperglycinaemia) : review and updateD 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...