Callum Wilson

Summary

Country: New Zealand

Publications

  1. ncbi Metabolic disease: a multitude of presentations
    Callum J Wilson
    National Metabolic Service, Auckland
    N Z Med J 115:191-2. 2002
  2. ncbi The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening
    Callum Wilson
    Newborn Metabolic Screening Unit, LapPlus, Auckland City Hospital, Auckland
    N Z Med J 120:U2727. 2007
  3. doi Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency
    Lisa M Bailey
    School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, South Australia 5005, Australia
    Hum Mutat 29:E47-57. 2008
  4. ncbi The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy
    Callum Wilson
    National Metabolic Service, Lab Plus, Auckland, New Zealand
    Mol Genet Metab 92:131-6. 2007
  5. ncbi Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates
    Callum J Wilson
    National Metabolic Service, Starship Children s Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand
    J Pediatr 147:115-8. 2005
  6. ncbi Vanishing white matter disease in a child presenting with ataxia
    C J Wilson
    National Metabolic Service, Starship Hospital, Auckland, New Zealand
    J Paediatr Child Health 41:65-7. 2005
  7. ncbi Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
    Callum J Wilson
    Metabolic Service, Starship Children s Hospital, Auckland, New Zealand
    Ann Neurol 53:807-10. 2003
  8. ncbi Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009
    Callum Wilson
    Newborn Metabolic Screening Unit, LabPlus, Auckland City Hospital, Auckland, New Zealand
    N Z Med J 125:42-50. 2012
  9. ncbi Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia
    Vivienne Homer
    Canterbury Health Laboratories, Department of Biochemistry, Christchurch, New Zealand
    Hum Genet 121:645-6. 2007
  10. ncbi Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia
    Vivienne M Homer
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Ann Neurol 58:160-3. 2005

Collaborators

Detail Information

Publications11

  1. ncbi Metabolic disease: a multitude of presentations
    Callum J Wilson
    National Metabolic Service, Auckland
    N Z Med J 115:191-2. 2002
  2. ncbi The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening
    Callum Wilson
    Newborn Metabolic Screening Unit, LapPlus, Auckland City Hospital, Auckland
    N Z Med J 120:U2727. 2007
    ....
  3. doi Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency
    Lisa M Bailey
    School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, South Australia 5005, Australia
    Hum Mutat 29:E47-57. 2008
    ..Furthermore, the turn-over rate for the mutant protein was double that of wildtype HLCS. These results help provide a molecular explanation for the incomplete biotin-responsiveness of this p.L216R form of HLCS...
  4. ncbi The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy
    Callum Wilson
    National Metabolic Service, Lab Plus, Auckland, New Zealand
    Mol Genet Metab 92:131-6. 2007
    ..Very low dose enzyme replacement therapy may be appropriate for adult type I Gaucher patients with mild-moderate skeletal disease...
  5. ncbi Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates
    Callum J Wilson
    National Metabolic Service, Starship Children s Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand
    J Pediatr 147:115-8. 2005
    ..We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome...
  6. ncbi Vanishing white matter disease in a child presenting with ataxia
    C J Wilson
    National Metabolic Service, Starship Hospital, Auckland, New Zealand
    J Paediatr Child Health 41:65-7. 2005
    ..We report the first confirmed Australasian patient...
  7. ncbi Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
    Callum J Wilson
    Metabolic Service, Starship Children s Hospital, Auckland, New Zealand
    Ann Neurol 53:807-10. 2003
    ..Subsequently, another sibling has been born with the same homozygous mutation and similar biochemistry but, perhaps because of early treatment, a normal neurological outcome...
  8. ncbi Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009
    Callum Wilson
    Newborn Metabolic Screening Unit, LabPlus, Auckland City Hospital, Auckland, New Zealand
    N Z Med J 125:42-50. 2012
    ..The purpose of this study was to compare the rate of diagnosis of inborn errors of intermediary metabolism (IEMs) in New Zealand in the 3 years before and after the commencement of expanded newborn screening (ENBS) in December 2006..
  9. ncbi Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia
    Vivienne Homer
    Canterbury Health Laboratories, Department of Biochemistry, Christchurch, New Zealand
    Hum Genet 121:645-6. 2007
  10. ncbi Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia
    Vivienne M Homer
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Ann Neurol 58:160-3. 2005
    ..This resulted in chronic vitamin E deficiency. We suggest the term normotriglyceridemic hypobetalipoproteinemia for this easily recognizable condition...
  11. pmc Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency
    Barbara Burwinkel
    Institut fur Physiologische Chemie, Medizinische Fakultat, Ruhr Universitat Bochum, Bochum, Germany
    Am J Hum Genet 76:1034-49. 2005
    ..However, the existence of a heart-specific primary phosphorylase kinase deficiency is questionable, because no phosphorylase kinase mutations were found...