Heidi Peters

A critically ill child with dark urine.

Amir Zayegh, Joy Lee, Heidi Peters, Daryl Efron

Journal article  |  2019  |  Archives of disease in childhood - Education & practice edition

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

CA Stutterd, NJ Lake, H Peters, PJ Lockhart, RJ Taft, MS van der Knaap, A Vanderver, DR Thorburn, C Simons, RJ Leventer

Journal article  |  2019  |  JIMD reports

AIM: To identify the genetic aetiology of a distinct leukoencephalopathy causing acute neurological regression in infancy with app..

Characterization of isolated liver sinusoidal endothelial cells for liver bioengineering

AM Dingle, KK Yap, Y-W Gerrand, CJ Taylor, E Keramidaris, Z Lokmic, AM Kong, HL Peters, WA Morrison, GM Mitchell

Journal article  |  2018  |  Angiogenesis

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Ian R Woodcock, Manoj P Menezes, Lee Coleman, Joy Yaplito-Lee, Heidi Peters, Susan M White, Rachel Stapleton, Dean G Phelan, Belinda Chong, Sebastian Lunke, Zornitza Stark, James Pitt, Monique M Ryan, Colin Robertson, Eppie M Yiu

Journal article  |  2018  |  Seminars in Pediatric Neurology

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed, Anna Jarmolowicz, Patrick Yap, Maie Walsh, Lilian Downie, David J Amor, Ravi Savarirayan, George McGillivray, Alison Yeung, Heidi Peters, Susan J Robertson, et al.

Journal article  |  2017  |  JAMA Pediatrics

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II

Louise Crowe, Joy Yaplito-Lee, Vicki Anderson, Heidi Peters

Journal article  |  2017  |  Cognitive Neuropsychology

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie, David J Amor, Ravi Savarirayan, George McGillivray, Lilian Downie, Paul G Ekert, Christiane Theda, Paul A James, Joy Yaplito-Lee, Monique M Ryan, Richard J Leventer, et al.

Journal article  |  2016  |  Genetics in Medicine

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Heidi Peters, Sacha Ferdinandusse, Jos P Ruiter, Ronald JA Wanders, Avihu Boneh, James Pitt

Journal article  |  2015  |  Molecular Genetics and Metabolism

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

James J Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito-Lee, Stefanie Wieser, Katrin Hinderhofer, David Johnson, Johannes Zschocke

Journal article  |  2015  |  Journal of Inherited Metabolic Disease

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Laura E Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John P Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Phillips, Zachary Spigelman, Cynthia Tifft, Priya S Kishnani

Journal article  |  2015  |  Neuromuscular Disorders

Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (alglucosidase alfa 20 ..

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Heidi Peters, Nicole Buck, Ronald Wanders, Jos Ruiter, Hans Waterham, Janet Koster, Joy Yaplito-Lee, Sacha Ferdinandusse, James Pitt

Journal article  |  2014  |  Brain

Cobalamin E defect, a rare inborn error of vitamin B12 metabolism: Value of early diagnosis and treatment

Tejaswi Kandula, Heidi Peters, Michael Fahey

Journal article  |  2014  |  Journal of Clinical Neuroscience

Correction of Methylmalonic Aciduria In Vivo Using a Codon-Optimized Lentiviral Vector

Edward SY Wong, Chantelle McIntyre, Heidi L Peters, Enzo Ranieri, Donald S Anson, Janice M Fletcher

Journal article  |  2014  |  Human Gene Therapy

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

Tyson L Ware, John Earl, Gajja S Salomons, Eduard A Struys, Heidi L Peters, Katherine B Howell, James J Pitt, Jeremy L Freeman

Journal article  |  2014  |  Developmental Medicine and Child Neurology

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Journal article  |  2014  |  American Journal of Human Genetics

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

R Freedman, M Sahhar, L Curnow, J Lee, H Peters

Journal article  |  2013  |  Journal of Genetic Counseling

Treatment of a methylmalonyl-CoA mutase stopcodon mutation

Nicole E Buck, Leonie R Wood, Natasha J Hamilton, Michael J Bennett, Heidi L Peters

Journal article  |  2012  |  Biochemical and Biophysical Research Communications

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia

Caroline Michot, Laurence Hubert, Norma B Romero, Amr Gouda, Asmaa Mamoune, Suja Mathew, Edwin Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James McGill, Emma Glamuzina, Michelle Farrar, Maya von der Hagen, Ian E Alexander, Brian Kirmse, Magalie Barth, Pascal Laforet, Pascale Benlian, et al.

Journal article  |  2012  |  Journal of Inherited Metabolic Disease

Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model

Nicole E Buck, Samuel D Pennell, Leonie R Wood, James J Pitt, Katrina J Allen, Heidi L Peters

Journal article  |  2012  |  Biochemical and Biophysical Research Communications

Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus

Nicole E Buck, Harriet Dashnow, James J Pitt, Leonie R Wood, Heidi L Peters

Journal article  |  2012  |  PLoS One

A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses

Geoff Frawley, Daniella Fuenzalida, Susan Donath, Joy Yaplito-Lee, Heidi Peters

Journal article  |  2012  |  Pediatric Anesthesia

Mouse Models for Methylmalonic Aciduria

Heidi L Peters, James J Pitt, Leonie R Wood, Natasha J Hamilton, Joseph P Sarsero, Nicole E Buck

Journal article  |  2012  |  PLoS One

Alpers Syndrome With Mutations in POLG: Clinical and Investigative Features

Matthew F Hunter, Heidi Peters, Renato Salemi, David Thorburn, Mark T Mackay

Journal article  |  2011  |  Pediatric Neurology

Stop codon read-through of a Methylmalonic aciduria mutation

Nicole E Buck, Leonie Wood, Ruimei Hu, Heidi L Peters

Journal article  |  2009  |  Molecular Genetics and Metabolism

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Francis Bowling, Kevin Carpenter, John Christodoulou, David Cowley, Carolyn Ellaway, Janice Fletcher, Edwin P Kirk, Barry Lewis, Jim McGill, Heidi Peters, James Pitt, Enzo Ranieri, Joy Yaplito-Lee, Avihu Boneh

Journal article  |  2009  |  Pediatrics

Gene induction for the treatment of methylmalonic aciduria

Ruimei Hu, Nicole E Buck, Mahmoud S Khaniani, Leonie Wood, Hady Wardan, Jean-Francois Benoist, Lingli Li, Jim Vadolas, Joseph P Sarsero, Panos A Ioannou, Heidi L Peters

Journal article  |  2009  |  Journal of Gene Medicine

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

Avihu Boneh, Dorothy EM Francis, Maureen Humphrey, Helen J Upton, Heidi L Peters

Journal article  |  2006  |  Journal of Paediatrics and Child Health

A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia

Duangporn Jamsai, Faten Zaibak, Jim Vadolas, Lucille Voullaire, Kerry J Fowler, Sophie Gazeas, Heidi Peters, Suthat Fucharoen, Robert Williamson, Panayiotis A Ioannou

Journal article  |  2006  |  Genomics

VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

A Boneh, BS Andresen, N Gregersen, M Ibrahim, N Tzanakos, H Peters, J Yaplito-Lee, JJ Pitt

Journal article  |  2006  |  Molecular Genetics and Metabolism