Heidi L Peters

Heidi L Peters

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Heidi L Peters

Heidi L Peters

Publications by authors named "Heidi L Peters"

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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

J Biol Chem 2016 09 12;291(39):20563-73. Epub 2016 Aug 12.

From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034050PMC
http://dx.doi.org/10.1074/jbc.M116.747717DOI Listing
September 2016

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

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

Dev Med Child Neurol 2014 May 23;56(5):498-502. Epub 2013 Nov 23.

Department of Neurology, The Royal Children's Hospital, Melbourne, Vic, Australia.

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http://dx.doi.org/10.1111/dmcn.12346DOI Listing
May 2014

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

Am J Hum Genet 2014 Feb 23;94(2):209-22. Epub 2014 Jan 23.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928654PMC
February 2014

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.

PLoS One 2012 14;7(9):e44974. Epub 2012 Sep 14.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne Department of Paediatrics, Parkville, Victoria, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0044974PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443245PMC
February 2013

Mouse models for methylmalonic aciduria.

PLoS One 2012 9;7(7):e40609. Epub 2012 Jul 9.

Metabolic Research, Murdoch Childrens Research Institute, Department of Paediatrics University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0040609PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392231PMC
January 2013

Treatment of a methylmalonyl-CoA mutase stopcodon mutation.

Biochem Biophys Res Commun 2012 Nov 4;427(4):753-7. Epub 2012 Oct 4.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne Department of Paediatrics, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

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http://dx.doi.org/10.1016/j.bbrc.2012.09.133DOI Listing
November 2012

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model.

Biochem Biophys Res Commun 2012 Oct 12;427(1):30-5. Epub 2012 Sep 12.

Metabolic Research, Murdoch Childrens Research Institute, The University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia.

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http://dx.doi.org/10.1016/j.bbrc.2012.08.134DOI Listing
October 2012

Stop codon read-through of a methylmalonic aciduria mutation.

Mol Genet Metab 2009 Aug 12;97(4):244-9. Epub 2009 Apr 12.

Cell & Gene Therapy Group, Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Vic. 3052, Australia.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.004DOI Listing
August 2009

Gene induction for the treatment of methylmalonic aciduria.

J Gene Med 2009 Apr;11(4):361-9

Cell and Gene Therapy Group, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1002/jgm.1297DOI Listing
April 2009

Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria.

J Paediatr Child Health 2006 Sep;42(9):496-8

Metabolic Service, Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Vic., Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2006.00909.xDOI Listing
September 2006

POLG mutations and Alpers syndrome.

Ann Neurol 2005 Jun;57(6):921-3

Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.

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http://dx.doi.org/10.1002/ana.20498DOI Listing
June 2005

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

Hum Mutat 2002 Nov;20(5):406

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/humu.9074DOI Listing
November 2002