Arthavan Selvanathan

Westmead, NSW, Australia

Last Updated: 09/26/2026

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Found 31 publications

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.

Journal: Molecular genetics and metabolism

Published: February 26, 2026

The History and Nosology of the Glycine Disorders: A Framework for Clinicians.

The History and Nosology of the Glycine Disorders: A Framework for Clinicians.

Journal: Journal of inherited metabolic disease

Published: October 18, 2025

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease.

Journal: JIMD reports

Published: August 25, 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

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.

Journal: Journal of inherited metabolic disease

Published: July 06, 2025

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.

An Explorative Qualitative Study of the Role of a Genetic Counsellor to Parents Receiving a Diagnosis After a Positive Newborn Bloodspot Screening.

Journal: International journal of neonatal screening

Published: March 01, 2025

Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B.

Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B.

Journal: Molecular genetics and metabolism

Published: January 14, 2025

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism.

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism.

Journal: JIMD reports

Published: November 20, 2024

Hematologic Manifestations in Primary Mitochondrial Diseases.

Hematologic Manifestations in Primary Mitochondrial Diseases.

Journal: Journal of pediatric hematology/oncology

Published: December 20, 2023

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Journal: JIMD reports

Published: June 14, 2023

Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.

Rapid whole-genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease.

Journal: Pediatric blood & cancer

Published: April 02, 2023

Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report.

Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: December 27, 2022

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Last Updated: 09/26/2026