Oliver Heath

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 14 publications

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: November 25, 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

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 23, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children.

Journal: Journal of personalized medicine

Published: April 10, 2024

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.

Diagnosis and stabilisation of familial chylomicronemia syndrome in two infants presenting with hypertriglyceridemia-induced acute pancreatitis.

Journal: JIMD reports

Published: February 01, 2024

Histologically atypical case of Gaucher disease type 1.

Histologically atypical case of Gaucher disease type 1.

Journal: BMJ case reports

Published: September 29, 2023

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Journal: The Journal of clinical investigation

Published: September 06, 2023

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review.

Journal: JIMD reports

Published: July 02, 2023

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.

Journal: Clinical chemistry and laboratory medicine

Published: May 24, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026