Wilson C - Search Results

1

Citrullinaemia type I: a common mutation in the Pacific Island population.

Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C. Glamuzina E, et al. Among authors: wilson c. J Paediatr Child Health. 2011 May;47(5):262-5. doi: 10.1111/j.1440-1754.2010.01948.x. Epub 2011 Jan 18. J Paediatr Child Health. 2011. PMID: 21244552

2

Risk factors for iron deficiency in a hospitalized urban New Zealand population.

Grant CC, Wall CR, Wilson C, Taua N. Grant CC, et al. Among authors: wilson c. J Paediatr Child Health. 2003 Mar;39(2):100-6. doi: 10.1046/j.1440-1754.2003.00086.x. J Paediatr Child Health. 2003. PMID: 12603797

3

Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.

Marquis-Nicholson R, Glamuzina E, Prosser D, Wilson C, Love DR. Marquis-Nicholson R, et al. Among authors: wilson c. Genet Mol Res. 2010 Aug 3;9(3):1483-9. doi: 10.4238/vol9-3gmr834. Genet Mol Res. 2010. PMID: 20690080 Free article.

4

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Jacobsen JC, Wilson C, Cunningham V, Glamuzina E, Prosser DO, Love DR, Burgess T, Taylor J, Swan B, Hill R, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: wilson c. J Inherit Metab Dis. 2016 Mar;39(2):305-8. doi: 10.1007/s10545-015-9897-6. Epub 2015 Oct 26. J Inherit Metab Dis. 2016. PMID: 26497564

5

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: wilson c. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.

6

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.

Ryder B, Knoll D, Love DR, Shepherd P, Love JM, Reed PW, de Hora M, Webster D, Glamuzina E, Wilson C. Ryder B, et al. Among authors: wilson c. J Inherit Metab Dis. 2016 May;39(3):409-414. doi: 10.1007/s10545-015-9911-z. Epub 2016 Jan 7. J Inherit Metab Dis. 2016. PMID: 26743058

7

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Nickerson SL, Marquis-Nicholson R, Claxton K, Ashton F, Leong IU, Prosser DO, Love JM, George AM, Taylor G, Wilson C, Gardner RJ, Love DR. Nickerson SL, et al. Among authors: wilson c. Microarrays (Basel). 2015 Oct 23;4(4):490-502. doi: 10.3390/microarrays4040490. Microarrays (Basel). 2015. PMID: 27600236 Free PMC article.

8

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.

Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. Wilson C, et al. JIMD Rep. 2017;35:53-58. doi: 10.1007/8904_2016_25. Epub 2016 Dec 8. JIMD Rep. 2017. PMID: 27928776 Free PMC article.

9

The decision to discontinue screening for carnitine uptake disorder in New Zealand.

Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. Wilson C, et al. J Inherit Metab Dis. 2019 Jan;42(1):86-92. doi: 10.1002/jimd.12030. J Inherit Metab Dis. 2019. PMID: 30740730 Review.

10

New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.

Ryder B, Inbar-Feigenberg M, Glamuzina E, Halligan R, Vara R, Elliot A, Coman D, Minto T, Lewis K, Schiff M, Vijay S, Akroyd R, Thompson S, MacDonald A, Woodward AJM, Gribben JEL, Grunewald S, Belaramani K, Hall M, van der Haak N, Devanapalli B, Tolun AA, Wilson C, Bhattacharya K. Ryder B, et al. Among authors: wilson c. J Inherit Metab Dis. 2021 Jul;44(4):903-915. doi: 10.1002/jimd.12371. Epub 2021 Mar 29. J Inherit Metab Dis. 2021. PMID: 33634872

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