Bindu P. Sankaran

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 12 publications

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.

Journal: JIMD reports

Published: May 20, 2025

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Journal: Journal of the American Academy of Audiology

Published: June 15, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: April 08, 2022

Functional network connectivity imprint in febrile seizures.

Functional network connectivity imprint in febrile seizures.

Journal: Scientific reports

Published: October 18, 2021

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Journal: Orphanet journal of rare diseases

Published: June 19, 2021

Child Neurology: Hereditary Folate Malabsorption.

Child Neurology: Hereditary Folate Malabsorption.

Journal: Neurology

Published: April 24, 2021

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Journal: International journal of neonatal screening

Published: March 27, 2021

Is Perls Prussian Blue Stain for Hemosiderin a Useful Adjunct in the Diagnosis of Vasculitic Neuropathies?

Is Perls Prussian Blue Stain for Hemosiderin a Useful Adjunct in the Diagnosis of Vasculitic Neuropathies?

Journal: Neurology India

Published: March 01, 2021

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

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

Published: February 28, 2021

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.

Journal: Neuromuscular disorders : NMD

Published: February 17, 2021

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.

Journal: Journal of neurology

Published: July 31, 2020

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.

Journal: Journal of molecular neuroscience : MN

Published: June 10, 2020

Showing 1-12 of 12

Last Updated: 09/26/2026