Works by Wilson, Callum

Results: 34

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

Published in:

Journal of Paediatrics & Child Health, 2011, v. 47, n. 5, p. 262, doi. 10.1111/j.1440-1754.2010.01948.x

By:

Glamuzina, Emma;
Marquis-Nicholson, Renate;
Knoll, Detlef;
Love, Donald R.;
Wilson, Callum

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 86, doi. 10.1002/jimd.12030

By:

Wilson, Callum;
Knoll, Detlef;
de Hora, Mark;
Kyle, Campbell;
Glamuzina, Emma;
Webster, Dianne

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 3, p. 409, doi. 10.1007/s10545-015-9911-z

By:

Ryder, Bryony;
Knoll, Detlef;
Love, Donald;
Shepherd, Phillip;
Love, Jennifer;
Reed, Peter;
Hora, Mark;
Webster, Dianne;
Glamuzina, Emma;
Wilson, Callum

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 305, doi. 10.1007/s10545-015-9897-6

By:

Jacobsen, Jessie;
Wilson, Callum;
Cunningham, Vicki;
Glamuzina, Emma;
Prosser, Debra;
Love, Donald;
Burgess, Trent;
Taylor, Juliet;
Swan, Brendan;
Hill, Rosamund;
Robertson, Stephen;
Snell, Russell;
Lehnert, Klaus

Publication type:

Article

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

Published in:

Annals of Neurology, 2010, v. 67, n. 6, p. 834, doi. 10.1002/ana.21980

By:

van der Knaap, Marjo S.;
Lai, Vincent;
Köhler, Wolfgang;
Salih, Mustafa A.;
Fonseca, Maria-José;
Benke, Tim A.;
Wilson, Callum;
Jayakar, Parul;
Aine, Marjo-riitta;
Dom, Lina;
Lynch, Bryan;
Kálmánchey, Rozalia;
Pietsch, Peter;
Errami, Ab;
Scheper, Gert C.

Publication type:

Article

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.

Published in:

Annals of Neurology, 2005, v. 58, n. 1, p. 160

By:

Vivienne M. Homer;
Peter M. George;
Stephen Du Toit;
James S. Davidson;
Callum J. Wilson

Publication type:

Article

Mental retardation and ataxia due to normotriglyceridemic hypobetalipoproteinemia.

Published in:

Annals of Neurology, 2005, v. 58, n. 1, p. 160

By:

Vivienne M. Homer;
Peter M. George;
Stephen Du Toit;
James S. Davidson;
Callum J. Wilson

Publication type:

Article

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

Published in:

Annals of Neurology, 2003, v. 53, n. 6, p. 807

By:

Callum J. Wilson;
Claudio Priore Oliva;
Franco Maggi;
Alberico L. Catapano;
Sebastiano Calandra

Publication type:

Article

A SURF1 gene mutation presenting as isolated leukodystrophy.

Published in:

2001

By:

Rahman, Shamina;
Brown, Ruth M;
Chong, Wui Khean;
Wilson, Callum J;
Brown, Garry K;
Rahman, S;
Brown, R M;
Chong, W K;
Wilson, C J;
Brown, G K

Publication type:

journal article

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 1, doi. 10.1093/hmg/ddab026

By:

Antonarakis, Stylianos E;
Holoubek, Aleš;
Rapti, Melivoia;
Rademaker, Jesse;
Meylan, Jenny;
Iwaszkiewicz, Justyna;
Zoete, Vincent;
Wilson, Callum;
Taylor, Juliet;
Ansar, Muhammad;
Borel, Christelle;
Menzel, Olivier;
Kuželová, Kateřina;
Santoni, Federico A

Publication type:

Article

Mitochondrial disease in New Zealand: a nationwide prevalence study.

Published in:

Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211

By:

Missen, Sarah;
Wilson, Callum;
Potter, Howard;
Vincent, Andrea L.;
Murphy, Rinki;
Roxburgh, Richard;
Rodrigues, Miriam;
Poke, Gemma;
Robertson, Stephen P.;
Thorburn, David R.;
Glamuzina, Emma

Publication type:

Article

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Published in:

Nutrients, 2019, v. 11, n. 11, p. 2572, doi. 10.3390/nu11112572

By:

van Vliet, Danique;
van Wegberg, Annemiek M.J.;
Ahring, Kirsten;
Bik-Multanowski, Miroslaw;
Casas, Kari;
Didycz, Bozena;
Djordjevic, Maja;
Hertecant, Jozef L.;
Leuzzi, Vincenzo;
Mathisen, Per;
Nardecchia, Francesca;
Powell, Kimberly K.;
Rutsch, Frank;
Stojiljkovic, Maja;
Trefz, Fritz K.;
Usurelu, Natalia;
Wilson, Callum;
van Karnebeek, Clara D.;
Hanley, William B.;
van Spronsen, Francjan J.

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099

By:

Huppke, Peter;
Brendel, Cornelia;
Korenke, Georg Christoph;
Marquardt, Iris;
Donsante, Anthony;
Yi, Ling;
Hicks, Julia D.;
Steinbach, Peter J.;
Wilson, Callum;
Elpeleg, Orly;
Møller, Lisbeth Birk;
Christodoulou, John;
Kaler, Stephen G.;
Gärtner, Jutta

Publication type:

Article

Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency.

Published in:

Human Mutation, 2008, v. 29, n. 6, p. E47, doi. 10.1002/humu.20766

By:

Bailey, Lisa M.;
Ivanov, Ruby A.;
Jitrapakdee, Sarawut;
Wilson, Callum J.;
Wallace, John C.;
Polyak, Steven W.

Publication type:

Article

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

Published in:

2015

By:

Jacobsen, Jessie C.;
Glamuzina, Emma;
Taylor, Juliet;
Swan, Brendan;
Handisides, Shona;
Wilson, Callum;
Fietz, Michael;
van Dijk, Tessa;
Appelhof, Bart;
Hill, Rosamund;
Marks, Rosemary;
Love, Donald R.;
Robertson, Stephen P.;
Snell, Russell G.;
Lehnert, Klaus

Publication type:

Case Study

Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009.

Published in:

New Zealand Medical Journal, 2012, v. 125, n. 1348, p. 42

By:

Wilson, Callum;
Kerruish, Nicola J;
Wilcken, Bridget;
Wiltshire, Esko;
Bendikson, Kathy;
Webster, Dianne

Publication type:

Article

Salicylate intoxication from teething gel in infancy.

Published in:

2011

By:

Williams GD;
Kirk EP;
Wilson CJ;
Meadows CA;
Chan BS;
Williams, Gary D;
Kirk, Edwin P;
Wilson, Callum J;
Meadows, Caroline A;
Chan, Betty S

Publication type:

journal article

Salicylate intoxication from teething gel in infancy.

Published in:

Medical Journal of Australia, 2011, v. 194, n. 3, p. 146, doi. 10.5694/j.1326-5377.2011.tb04201.x

By:

Williams, Gary D.;
Kirk, Edwin P.;
Wilson, Callum J.;
Meadows, Caroline A.;
Chan, Betty S.

Publication type:

Article

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

Published in:

Microarrays (2076-3905), 2015, v. 4, n. 4, p. 490, doi. 10.3390/microarrays4040490

By:

Nickerson, Sarah L.;
Marquis-Nicholson, Renate;
Claxton, Karen;
Ashton, Fern;
Leong, Ivone U. S.;
Prosser, Debra O.;
Love, Jennifer M.;
George, Alice M.;
Taylor, Graham;
Wilson, Callum;
McKinlay Gardner, R. J.;
Love, Donald R.

Publication type:

Article

A descriptive observational study of B12 testing during pregnancy and infancy in New Zealand and suggested guidance for testing and treatment.

Published in:

New Zealand Medical Journal, 2025, v. 138, n. 1610, p. 60, doi. 10.26635/6965.6615

By:

Henry, Asher;
Heather, Natasha;
Kyle, Campbell;
Gudex, Teresa;
Webster, Dianne;
Wilson, Callum

Publication type:

Article

Outcomes in mild hyperphenylalaninemia: a comparison with PKU and healthy controls across cognition, behaviour, and quality of life.

Published in:

New Zealand Medical Journal, 2022, v. 135, n. 1567, p. 31

By:

Randell, Nastassia;
Barker-Collo, Suzanne;
Murrell, Kathryn;
Wilson, Callum

Publication type:

Article

Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.

Published in:

2022

By:

Bernhardt, Isaac;
Ryder, Bryony;
Wilson, Callum

Publication type:

Letter

Preparation of elastomeric nanocomposites using nanocellulose and recycled alum sludge for flexible dielectric materials.

Published in:

Journal of Advanced Dielectrics, 2023, v. 13, n. 1, p. 1, doi. 10.1142/S2010135X22420085

By:

Sun, Dongyang;
Saw, Bernard L. H.;
Onyianta, Amaka J.;
Wang, Bowen;
Wilson, Callum;
O'Rourke, Dominic;
See, Chan H.;
Popescu, Carmen-Mihaela;
Dorris, Mark;
Shyha, Islam;
Lu, Zhilun

Publication type:

Article

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

Published in:

2006

By:

Pagnamenta, Alistair T;
Taanman, Jan-Willem;
Wilson, Callum J;
Anderson, Neil E;
Marotta, Rosetta;
Duncan, Andrew J;
Bitner-Glindzicz, Maria;
Taylor, Robert W;
Laskowski, Adrienne;
Thorburn, David R;
Rahman, Shamima

Publication type:

journal article

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

Published in:

Human Reproduction, 2006, v. 21, n. 10, p. 2467

By:

Alistair T. Pagnamenta;
Jan-Willem Taanman;
Callum J. Wilson;
Neil E. Anderson;
Rosetta Marotta;
Andrew J. Duncan;
Maria Bitner- Glindzicz;
Robert W. Taylor;
Adrienne Laskowski;
David R. Thorburn;
Shamima Rahman

Publication type:

Article

D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12461

By:

Amer, Aya;
Murrell, Kathryn;
Edmonds, Liza;
Bernhardt, Isaac;
Akroyd, Rhonda;
Ryder, Bryony;
Wilson, Callum;
Glamuzina, Emma

Publication type:

Article

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 180, doi. 10.1002/jmd2.12339

By:

Bernhardt, Isaac;
Glamuzina, Emma;
Ryder, Bryony;
Knoll, Detlef;
Heather, Natasha;
De Hora, Mark;
Webster, Dianne;
Wilson, Callum

Publication type:

Article

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.

Published in:

2022

By:

Bernhardt, Isaac;
Glamuzina, Emma;
Dowsett, Leah K.;
Webster, Dianne;
Knoll, Detlef;
Carpenter, Kevin;
Bennett, Michael J.;
Maeda, Michelle;
Wilson, Callum

Publication type:

Case Study

Intellectual functioning in alpha‐mannosidosis.

Published in:

Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 44, doi. 10.1002/jmd2.12073

By:

Cathey, Sara S.;
Sarasua, Sara M.;
Simensen, Richard;
Pietris, Katie;
Kimbrell, Gordon;
Sillence, David;
Wilson, Callum;
Horowitz, Lucia

Publication type:

Article

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

Published in:

Ophthalmic Genetics, 2012, v. 33, n. 4, p. 253, doi. 10.3109/13816810.2012.716489

By:

Sheck, Leo H. N.;
Wilson, Callum J.;
Vincent, Andrea L.

Publication type:

Article

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Published in:

Nature Genetics, 2010, v. 42, n. 10, p. 851, doi. 10.1038/ng.659

By:

Calvo, Sarah E.;
Tucker, Elena J.;
Compton, Alison G.;
Kirby, Denise M.;
Crawford, Gabriel;
Burtt, Noel P.;
Rivas, Manuel;
Guiducci, Candace;
Bruno, Damien L.;
Goldberger, Olga A.;
Redman, Michelle C.;
Wiltshire, Esko;
Wilson, Callum J.;
Altshuler, David;
Gabriel, Stacey B.;
Daly, Mark J.;
Thorburn, David R.;
Mootha, Vamsi K.

Publication type:

Article

Classifying Intelligence in Machines: A Taxonomy of Intelligent Control †.

Published in:

Robotics, 2020, v. 9, n. 3, p. 64, doi. 10.3390/robotics9030064

By:

Wilson, Callum;
Marchetti, Francesco;
Di Carlo, Marilena;
Riccardi, Annalisa;
Minisci, Edmondo

Publication type:

Article

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

Published in:

Annals of Clinical Biochemistry, 2012, v. 49, n. 2, p. 201, doi. 10.1258/acb.2011.011180

By:

Lynn, Adrienne M.;
King, Richard I.;
Mackay, Richard J.;
Florkowski, Chris M.;
Wilson, Callum J.

Publication type:

Article