Publications by authors named "Avihu Boneh"

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3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won-Tae Kim, Maina P Kava, Avihu Boneh

JIMD Rep· November 2022

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Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.
Sarah E Donoghue, James J Pitt, Avihu Boneh, Susan M White

J Pediatr Endocrinol Metab· March 2018

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Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase Deficiency.
Louise Crowe, Vicki Anderson, Winita Hardikar, Avihu Boneh

JIMD Rep· March 2018

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The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria.
Maureen Evans, Kay Nguo, Avihu Boneh, Helen Truby

JIMD Rep· November 2017

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The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism.
Maureen Evans, Helen Truby, Avihu Boneh

J Pediatr· September 2017

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The relationship between dietary intake, growth and body composition in Phenylketonuria.
Maureen Evans, Helen Truby, Avihu Boneh

Mol Genet Metab· September 2017

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VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Maureen Evans, Brage S Andresen, Judy Nation, Avihu Boneh

Mol Genet Metab· August 2016

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Rikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, Signe Mosegaard, Veronika Boczonadi, Avihu Boneh

Am J Hum Genet· June 2016

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Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Amy Brown, Louise Crowe, Avihu Boneh, Vicki Anderson

JIMD Rep· March 2016

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Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Heidi Peters, Sacha Ferdinandusse, Jos P Ruiter, Ronald J A Wanders, Avihu Boneh

Mol Genet Metab· August 2015

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

J Inherit Metab Dis· July 2015

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Dietary protein in urea cycle defects: How much? Which? How?
Avihu Boneh

Mol Genet Metab· June 2015

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
James J Pitt, Heidi Peters, Avihu Boneh, Joy Yaplito-Lee, Stefanie Wieser

J Inherit Metab Dis· May 2015

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Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.
Amy Brown, Louise Crowe, Miriam H Beauchamp, Vicki Anderson, Avihu Boneh

JIMD Rep· March 2015

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An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Galit Tal, James Pitt, Sally Morrisy, Nicholas Tzanakos, Avihu Boneh

Mol Genet Metab· March 2015

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Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
Sanne van Dongen, Ruth M Brown, Garry K Brown, David R Thorburn, Avihu Boneh

JIMD Rep· December 2014

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Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
Amy Brown, Louise Crowe, Brage S Andresen, Vicki Anderson, Avihu Boneh

Mol Genet Metab· December 2014

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Linear growth of children on a ketogenic diet: does the protein-to-energy ratio matter?
Judy Nation, Maureen Humphrey, Mark MacKay, Avihu Boneh

J Child Neurol· November 2014

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Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Sabine Fischer, Martina Huemer, Matthias Baumgartner, Federica Deodato, Diana Ballhausen, Avihu Boneh

J Inherit Metab Dis· September 2014

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New ways of defining protein and energy relationships in inborn errors of metabolism.
Maureen Humphrey, Helen Truby, Avihu Boneh

Mol Genet Metab· August 2014

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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Alexandra Lopes Costa, Carole Le Bachelier, Lise Mathieu, Agnès Rotig, Avihu Boneh

Hum Mol Genet· April 2014

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Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Toshiyuki Fukao, Yuka Aoyama, Keiko Murase, Tomohiro Hori, Rajesh K Harijan, Avihu Boneh

Mol Genet Metab· March 2014

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Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney, Avihu Boneh

Mol Genet Metab· March 2014

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Avihu Boneh

Hum Mol Genet· November 2013

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Histopathological findings in livers of patients with urea cycle disorders.
Joy Yaplito-Lee, Chung-Wo Chow, Avihu Boneh

Mol Genet Metab· March 2013

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