Heidi L. Peters

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 41 publications

An Australian standard of care for Niemann-Pick disease type C.

An Australian standard of care for Niemann-Pick disease type C.

Journal: Internal medicine journal

Published: November 17, 2025

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial.

Journal: Metabolism: clinical and experimental

Published: October 28, 2025

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.

Journal: Genome medicine

Published: September 18, 2024

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study.

Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study.

Journal: JIMD reports

Published: July 24, 2024

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 05, 2023

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 01, 2022

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Journal: European journal of medical genetics

Published: January 23, 2022

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.

Journal: The Journal of pediatrics

Published: January 05, 2022

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Journal: International journal of molecular sciences

Published: December 20, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026