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..

Treatable lysosomal storage diseases in the advent of disease-specific therapy

Heidi Peters, Carolyn Ellaway, Kathleen Nicholls, Katrina Reardon, Jeff Szer

Journal article  |  2020  |  INTERNAL MEDICINE JOURNAL

Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by muta..

A critically ill child with dark urine.

Amir Zayegh, Joy Lee, Heidi Peters, Daryl Efron

Journal article  |  2019  |  Arch Dis Child Educ Pract Ed

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 Rep

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

BACKGROUND: The liver sinusoidal capillaries play a pivotal role in liver regeneration, suggesting they may be beneficial in liver..

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

Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar d..

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

Importance: Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be consid..

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II

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

Journal article  |  2017  |  COGNITIVE NEUROPSYCHOLOGY

Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme invo..

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

PURPOSE: To prospectively evaluate the diagnostic and clinical utility of singleton whole-exome sequencing (WES) as a first-tier t..

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

3-Hydroxyisobutyryl-CoA hydrolase deficiency (HIBCHD) is a rare inborn error of the valine catabolic pathway associated with Leigh..