Avihu Boneh

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

Louise Crowe, Vicki Anderson, Winita Hardikar, Avihu Boneh

Journal article  |  2019  |  JIMD reports

Ornithine Trans-Carbamylase (OTC) deficiency is the most common disorder of the urea cycle. Cognitive impairments in skills such a..

Malignant brain tumors in patients with glutaric aciduria type I

A Serrano Russi, S Donoghue, A Boneh, R Manara, AB Burlina, AP Burlina

Journal article  |  2018  |  Molecular Genetics and Metabolism

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White

Journal article  |  2018  |  Journal of Pediatric Endocrinology and Metabolism

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

Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby

Journal article  |  2018  |  JIMD reports

AIM: To compare the measurement of total body water (TBW) and fat-free mass (FFM) using the criterion method of deuterium dilution..

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

Maureen Evans, Helen Truby, Avihu Boneh

Journal article  |  2017  |  Molecular Genetics and Metabolism

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

Maureen Evans, Helen Truby, Avihu Boneh

Journal article  |  2017  |  The Journal of Pediatrics

Nenad Blau (ed.). Phenylketonuria and BH4 deficiencies : 3rd Edition 2016; 112 pp; 39.80 Euro; ISBN 978-3-8374-1526-1.

Avihu Boneh

Journal article  |  2017  |  Journal of Inherited Metabolic Disease

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

Amy Brown, Louise Crowe, Avihu Boneh, Vicki Anderson

Journal article  |  2017  |  JIMD reports

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

Maureen Evans, Brage S Andresen, Judy Nation, Avihu Boneh

Journal article  |  2016  |  Molecular Genetics and Metabolism

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

Rikke KJ Olsen, Eliska Konarikova, Teresa A Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Matakovic, Alice Veauville-Merllie, Caterina Terrile, Thomas Schwarzmayr, Tobias B Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Rios, Johan Palmfeldt, Elisabeth Graf, Christine Vianey-Saban, Marcus Oppenheim, Manuel Schiff, et al.

Journal article  |  2016  |  American Journal of Human Genetics