David J. Coman

501 Stanley Street
South Brisbane, QLD, Australia

Last Updated: 09/26/2026

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Found 94 publications

Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.

Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.

Journal: International journal of molecular sciences

Published: July 20, 2026

Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series.

Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series.

Journal: Behavior modification

Published: April 22, 2026

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

Journal: International journal of neonatal screening

Published: January 23, 2026

Observer agreement for a novel visual rating scale of vermian atrophy in childhood ataxia telangiectasia.

Observer agreement for a novel visual rating scale of vermian atrophy in childhood ataxia telangiectasia.

Journal: AJNR. American journal of neuroradiology

Published: January 21, 2026

Heritability of Long-Term Complications in Classic Galactosemia.

Heritability of Long-Term Complications in Classic Galactosemia.

Journal: Journal of inherited metabolic disease

Published: December 19, 2025

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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025.

Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025.

Journal: DNA repair

Published: October 04, 2025

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.

A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland.

Journal: Journal of paediatrics and child health

Published: August 14, 2025

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency.

Journal: JIMD reports

Published: July 11, 2025

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease.

Journal: JIMD reports

Published: June 28, 2025

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.

Journal: JIMD reports

Published: June 28, 2025

Showing 1-12 of 94

Last Updated: 09/26/2026