Publications by authors named "Callum J Wilson"

13Publications

Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography.

Ophthalmic Genet 2012 Dec 6;33(4):253-6. Epub 2012 Sep 6.

Department of Ophthalmology, Faculty of Medical and Health Sciences, New Zealand National Eye Centre, University of Auckland, New Zealand.

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http://dx.doi.org/10.3109/13816810.2012.716489DOI Listing
December 2012

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency.

Ann Clin Biochem 2012 Mar 25;49(Pt 2):201-3. Epub 2012 Jan 25.

Neonatal Services, Level 4, Christchurch Women’s Hospital, Private Bag 4711, Christchurch 8140, New Zealand.

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http://dx.doi.org/10.1258/acb.2011.011180DOI Listing
March 2012

Salicylate intoxication from teething gel in infancy.

Med J Aust 2011 Feb;194(3):146-8

Sydney Children's Hospital, Sydney, NSW, Australia.

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February 2011

Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.

Hum Mutat 2008 Jun;29(6):E47-57

School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, South Australia 5005, Australia.

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http://doi.wiley.com/10.1002/humu.20766
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http://dx.doi.org/10.1002/humu.20766DOI Listing
June 2008

Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemia.

Hum Genet 2007 Jun;121(5):645-6

Canterbury Health Laboratories, Department of Biochemistry, Christchurch, New Zealand.

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June 2007

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Hum Reprod 2006 Oct 4;21(10):2467-73. Epub 2006 Apr 4.

Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1093/humrep/del076DOI Listing
October 2006

Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

J Pediatr 2005 Jul;147(1):115-8

National Metabolic Service, Starship Children's Hospital, the Neonatal Service, Kidz First Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jpeds.2005.03.006DOI Listing
July 2005

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.

Ann Neurol 2005 Jul;58(1):160-3

Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand.

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http://dx.doi.org/10.1002/ana.20531DOI Listing
July 2005

Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy.

Ann Neurol 2003 Jun;53(6):807-10

Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ana.10598DOI Listing
June 2003

Metabolic disease: a multitude of presentations.

Authors:
Callum J Wilson

N Z Med J 2002 Apr;115(1152):191-2

National Metabolic Service, Auckland.

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April 2002