Heidi Peters

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

Kathryn Clarkston, Joy Lee, Sarah Donoghue, Heidi Peters, Hernan Eiroa, Amit A Shah, Kathleen Loomes, Jessica Wen, Mark Oliver, Winita Hardikar, Carlos E Prada, Akihiro Asai

Journal article  |  2020  |  American Journal of Medical Genetics Part A

We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepat..

A critically ill child with dark urine.

Amir Zayegh, Joy Lee, Heidi Peters, Daryl Efron

Journal article  |  2019  |  Archives of Disease in Childhood - Education and Practice

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