Country: New Zealand
- Metabolic disease: a multitude of presentationsCallum J Wilson
National Metabolic Service, Auckland
N Z Med J 115:191-2. 2002
- The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screeningCallum Wilson
Newborn Metabolic Screening Unit, LapPlus, Auckland City Hospital, Auckland
N Z Med J 120:U2727. 2007....
- Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiencyLisa 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...
- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn ScreeningCallum Wilson
National Metabolic Service, Starship Children s Hospital, PO Box 92024, Auckland, 1142, New Zealand
JIMD Rep . 2016....
- Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009Callum 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..
- The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapyCallum 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...
- Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonatesCallum 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...
- Vanishing white matter disease in a child presenting with ataxiaC 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...
- Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancyCallum 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...
- 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 treatmentBryony 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. ..
- Novel human pathological mutations. Gene symbol: APOB. Disease: normotriglyceridemic hypobetalipoproteinemiaVivienne Homer
Canterbury Health Laboratories, Department of Biochemistry, Christchurch, New Zealand
Hum Genet 121:645-6. 2007
- SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson
Diagnostic Genetics, LabPlus, Auckland City Hospital, P O Box 110031, Auckland 1148, New Zealand
Microarrays (Basel) 4:490-502. 2015....
- Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie 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....
- Citrullinaemia type I: a common mutation in the Pacific Island populationEmma 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)...
- 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 deficiencyBarbara 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...
- Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemiaVivienne 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...