Beena Devanapalli

Westmead, NSW 2145, Australia

Last Updated: 09/26/2026

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Found 10 publications

Functional Editing of the OTC locus by Targeted Integration with Phenotype Correction and Restoration of Physiological Patterns of Expression.

Functional Editing of the OTC locus by Targeted Integration with Phenotype Correction and Restoration of Physiological Patterns of Expression.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: January 28, 2026

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Journal: Human gene therapy

Published: June 23, 2023

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Journal: Human molecular genetics

Published: January 08, 2023

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

Journal: Nutrients

Published: December 04, 2022

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.

Journal: Brain & development

Published: October 04, 2022

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.

A narrative review of metabolomics in the era of "-omics": integration into clinical practice for inborn errors of metabolism.

Journal: Translational pediatrics

Published: March 20, 2022

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

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

New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.

New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.

Journal: Journal of inherited metabolic disease

Published: October 01, 2020

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.

Journal: Orphanet journal of rare diseases

Published: September 23, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026