Publications by authors named "Janice M Fletcher"

27Publications

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.

JIMD Rep 2020 Sep 30;55(1):68-74. Epub 2020 Jun 30.

Genetics and Molecular Pathology SA Pathology [at Women's and Children's Hospital] Adelaide South Australia Australia.

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http://dx.doi.org/10.1002/jmd2.12132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463049PMC
September 2020

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

Expanding the clinical utility of glucosylsphingosine for Gaucher disease.

J Inherit Metab Dis 2020 May 26;43(3):558-563. Epub 2019 Nov 26.

Genetics and Molecular Pathology, SA Pathology [at Women's and Children's Hospital], North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/jimd.12192DOI Listing
May 2020

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses.

Genet Med 2019 03 31;21(3):753-757. Epub 2018 Jul 31.

Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/s41436-018-0136-zDOI Listing
March 2019

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.

Mol Genet Metab 2017 09 19;122(1-2):121-125. Epub 2017 Aug 19.

Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.08.004DOI Listing
September 2017

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy.

Anal Chim Acta 2017 Feb 19;955:79-85. Epub 2016 Dec 19.

Genetics and Molecular Pathology, SA Pathology, at Women's and Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia; School of Medicine, University of Adelaide, Adelaide, South Australia, 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2016.12.002DOI Listing
February 2017

Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool.

Clin Chim Acta 2015 Oct 29;450:6-10. Epub 2015 Jul 29.

Genetics and Molecular Pathology, SA Pathology [at Women's and Children's Hospital], 72 King William Road, North Adelaide, South Australia 5006, Australia; Department of Paediatrics, University of Adelaide, Adelaide, South Australia 5005, Australia.

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http://dx.doi.org/10.1016/j.cca.2015.07.026DOI Listing
October 2015

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Hum Gene Ther 2014 Jun 2;25(6):529-38. Epub 2014 Apr 2.

1 Genetics and Molecular Pathology, Women's and Children's Hospital , North Adelaide, SA 5006, Australia .

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http://www.liebertpub.com/doi/10.1089/hum.2013.111
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http://dx.doi.org/10.1089/hum.2013.111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064729PMC
June 2014

Enzyme replacement therapy "drug holiday": results from an unexpected shortage of an orphan drug supply in Australia.

Blood Cells Mol Dis 2011 Jan 1;46(1):107-10. Epub 2010 Jun 1.

School of Paediatrics and Child Health, University of Western Australia, Australia.

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http://dx.doi.org/10.1016/j.bcmd.2010.05.002DOI Listing
January 2011

Pathogen-induced rapid evolution in a vertebrate life-history trait.

Proc Biol Sci 2011 Jan 28;278(1702):35-41. Epub 2010 Jul 28.

Centre for Ecological and Evolutionary Synthesis (CEES), Department of Biology, University of Oslo, PO Box 1066 Blindern, 0316 Oslo, Norway.

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http://dx.doi.org/10.1098/rspb.2010.0960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992719PMC
January 2011

Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA.

Mol Genet Metab 2010 Oct-Nov;101(2-3):208-13. Epub 2010 Jun 22.

Department of Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.008DOI Listing
January 2011

Harvest-induced disruptive selection increases variance in fitness-related traits.

Proc Biol Sci 2009 Dec 9;276(1676):4163-71. Epub 2009 Sep 9.

UPMC-Paris6, UMR (CNRS) 7618, Laboratoire Biogéochimie et Ecologie des Milieux Continentaux, 46 rue d'Ulm, F-75230 Paris Cedex 05, France.

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http://dx.doi.org/10.1098/rspb.2009.1106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2821340PMC
December 2009

Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA.

J Cell Physiol 2009 May;219(2):259-64

Department of Genetic Medicine, Matrix Biology Unit, Children, Youth and Women's Health Service, North Adelaide, SA, Australia.

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http://doi.wiley.com/10.1002/jcp.21682
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http://dx.doi.org/10.1002/jcp.21682DOI Listing
May 2009

Antagonistic selection from predators and pathogens alters food-web structure.

Proc Natl Acad Sci U S A 2008 Dec 8;105(50):19792-6. Epub 2008 Dec 8.

Centre for Ecological and Evolutionary Synthesis (CEES), University of Oslo, Department of Biology, P.O. Box 1066 Blindern, 0316 Oslo, Norway.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0808011105
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http://dx.doi.org/10.1073/pnas.0808011105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2604947PMC
December 2008

Diagnosis and management support for an expanded newborn screening programme.

Ann Acad Med Singap 2008 Dec;37(12 Suppl):27-2

Department of Genetic Medicine, Children's Youth and Women's Health Service, North Adelaide, Australia.

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December 2008

Trait changes in a harvested population are driven by a dynamic tug-of-war between natural and harvest selection.

Proc Natl Acad Sci U S A 2007 Oct 26;104(40):15799-804. Epub 2007 Sep 26.

Centre for Ecological and Evolutionary Synthesis, Department of Biology, University of Oslo, P.O. Box 1066 Blindern, 0316 Oslo, Norway.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0705908104
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http://dx.doi.org/10.1073/pnas.0705908104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2000386PMC
October 2007

Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.

Mol Genet Metab 2007 Sep-Oct;92(1-2):115-21. Epub 2007 Aug 6.

Department of Genetic Medicine, Children, Youth and Women's Health Service, North Adelaide, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2007.06.016DOI Listing
November 2007

Four decades of opposing natural and human-induced artificial selection acting on Windermere pike (Esox lucius).

Ecol Lett 2007 Jun;10(6):512-21

Department of Biology, Centre for Ecological and Evolutionary Synthesis (CEES), University of Oslo, Blindern, Oslo, Norway.

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http://dx.doi.org/10.1111/j.1461-0248.2007.01046.xDOI Listing
June 2007

Gene therapy for disorders affecting children, progress and potential.

J Paediatr Child Health 2007 May;43(5):323-30

Department of Genetic Medicine, Children, Youth and Women's Health Service, University of South Australia, Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1111/j.1440-1754.2007.01074.x
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http://dx.doi.org/10.1111/j.1440-1754.2007.01074.xDOI Listing
May 2007

The ideal free pike: 50 years of fitness-maximizing dispersal in Windermere.

Proc Biol Sci 2006 Dec;273(1604):2917-24

Centre for Ecological and Evolutionary Synthesis, Department of Biology, University of Oslo, PO Box 1066 Blindern, 0316 Oslo, Norway.

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http://dx.doi.org/10.1098/rspb.2006.3659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1639511PMC
December 2006

Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA.

Pediatr Res 2006 Sep 20;60(3):309-14. Epub 2006 Jul 20.

Department of Genetic Medicine, Children, Youth, and Women's Health Service, North. Adelaide, SA 5006 Australia.

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http://dx.doi.org/10.1203/01.pdr.0000233037.00707.daDOI Listing
September 2006

Screening for lysosomal storage disorders--a clinical perspective.

J Inherit Metab Dis 2006 Apr-Jun;29(2-3):405-8

Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Rd, North Adelaide, South Australia, 5006, Australia.

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http://dx.doi.org/10.1007/s10545-006-0246-7DOI Listing
January 2007

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Ann Neurol 2004 Jan;55(1):58-64

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.10787DOI Listing
January 2004

Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency.

Clin Chem 2003 Apr;49(4):681-4

Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Rd., North Adelaide, South Australia 5006, Australia.

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http://dx.doi.org/10.1373/49.4.681DOI Listing
April 2003