Avihu Boneh

Flemington Road
Parkville, NSW 3052, Australia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 30 publications

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

Journal: JIMD reports

Published: August 01, 2022

Malignant brain tumors in patients with glutaric aciduria type I.

Malignant brain tumors in patients with glutaric aciduria type I.

Journal: Molecular genetics and metabolism

Published: May 30, 2018

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 29, 2017

Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.

Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.

Journal: JIMD reports

Published: October 01, 2017

The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria.

The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria.

Journal: JIMD reports

Published: September 21, 2017

The relationship between dietary intake, growth and body composition in Phenylketonuria.

The relationship between dietary intake, growth and body composition in Phenylketonuria.

Journal: Molecular genetics and metabolism

Published: June 05, 2017

The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.

The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.

Journal: The Journal of pediatrics

Published: December 05, 2016

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Journal: Molecular genetics and metabolism

Published: April 07, 2016

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Journal: American journal of human genetics

Published: January 22, 2016

Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.

Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.

Journal: JIMD reports

Published: August 25, 2015

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.

Journal: Molecular genetics and metabolism

Published: April 26, 2015

Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism.

Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism.

Journal: Journal of inherited metabolic disease

Published: December 16, 2014

Showing 1-12 of 30

Last Updated: 09/26/2026