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 Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
    Callum Wilson
    National Metabolic Service, Starship Children s Hospital, PO Box 92024, Auckland, 1142, New Zealand
    JIMD Rep . 2016
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. doi The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
    Bryony Ryder
    Starship Children s Hospital, Auckland, New Zealand
    J Inherit Metab Dis 39:409-14. 2016

Collaborators

  • Stephen P Robertson
  • Brian A Darlow
  • Vivienne Homer
  • B Wilcken
  • N J Kerruish
  • Donald R Love
  • Emma Glamuzina
  • Bryony Ryder
  • Jessie C Jacobsen
  • Debra O Prosser
  • Jennifer M Love
  • Sarah L Nickerson
  • Detlef Knoll
  • Renate Marquis-Nicholson
  • Lisa M Bailey
  • Barbara Burwinkel
  • Trent Burgess
  • Dianne Webster
  • Mark De Hora
  • Juliet Taylor
  • Vicki Cunningham
  • Phillip Shepherd
  • Peter W Reed
  • Brendan Swan
  • Klaus Lehnert
  • Rosamund Hill
  • Russell G Snell
  • Alice M George
  • Ivone U S Leong
  • Fern Ashton
  • Karen Claxton
  • Graham Taylor
  • R J McKinlay Gardner
  • Steven W Polyak
  • Ruby A Ivanov
  • John C Wallace
  • Sarawut Jitrapakdee
  • John W Scott
  • D Grahame Hardie
  • Gerald F Cox
  • Frank K H van Landeghem
  • Christoph Buhrer
  • Manfred W Kilimann

Detail Information

Publications16

  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 Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening
    Callum Wilson
    National Metabolic Service, Starship Children s Hospital, PO Box 92024, Auckland, 1142, New Zealand
    JIMD Rep . 2016
    ....
  5. 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..
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. doi The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment
    Bryony Ryder
    Starship Children s Hospital, Auckland, New Zealand
    J Inherit Metab Dis 39:409-14. 2016
    ..9-2.4 μmol/L, on NBS are at very low risk of clinically significant childhood disease. A minimally interventional approach to managing these patients is indicated, at least in the New Zealand population. ..
  11. 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
  12. pmc SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
    Sarah L Nickerson
    Diagnostic Genetics, LabPlus, Auckland City Hospital, P O Box 110031, Auckland 1148, New Zealand
    Microarrays (Basel) 4:490-502. 2015
    ....
  13. doi Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder
    Jessie C Jacobsen
    Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland, New Zealand
    J Inherit Metab Dis 39:305-8. 2016
    ....
  14. doi Citrullinaemia type I: a common mutation in the Pacific Island population
    Emma Glamuzina
    Paediatric Metabolic Service, Starship Children s Hospital, Auckland, New Zealand
    J Paediatr Child Health 47:262-5. 2011
    ..The aim of this study was to develop and apply a mutation screening protocol for the ASS1 gene in order to confirm the diagnosis of citrullinaemia type I in neonates with elevated citrulline on expanded newborn screening (E-NBS)...
  15. 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...
  16. 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...