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  |  The American Journal of Human Genetics

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Heidi Peters, Sacha Ferdinandusse, Jos P Ruiter, Ronald JA Wanders, Avihu Boneh, James Pitt

Journal article  |  2015  |  Molecular Genetics and Metabolism

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

Avihu Boneh

Journal article  |  2015  |  Journal of Inherited Metabolic Disease

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, Katrin Hinderhofer, David Johnson, Johannes Zschocke

Journal article  |  2015  |  Journal of Inherited Metabolic Disease

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

Journal article  |  2015  |  Molecular Genetics and Metabolism

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

Journal article  |  2014  |  Molecular Genetics and Metabolism

Linear Growth of Children on a Ketogenic Diet: Does the Protein-to-Energy Ratio Matter?

Judy Nation, Maureen Humphrey, Mark MacKay, Avihu Boneh

Journal article  |  2014  |  Journal of Child Neurology

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening

M Barends, J Pitt, S Morrissy, N Tzanakos, A Boneh

Journal article  |  2014  |  Molecular Genetics and Metabolism

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

Avihu Boneh

Journal article  |  2014  |  Molecular Genetics and Metabolism

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, Alberto B Burlina, Roberto Cerone, Paula Garcia, Guelden Goekcay, Stephanie Gruenewald, Johannes Haeberle, Jaak Jaeken, David Ketteridge, Martin Lindner, Hanna Mandel, Diego Martinelli, Esmeralda G Martins, Karl O Schwab, Sarah C Gruenert, et al.

Journal article  |  2014  |  Journal of Inherited Metabolic Disease

New ways of defining protein and energy relationships in inborn errors of metabolism

Maureen Humphrey, Helen Truby, Avihu Boneh

Journal article  |  2014  |  Molecular Genetics and Metabolism

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, Agnes Rotig, Avihu Boneh, Pascale De Lonlay, Mark A Tarnopolsky, David R Thorburn, Jean Bastin, Fatima Djouadi

Journal article  |  2014  |  Human Molecular Genetics

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, Stephanie Austin, David A Weinstein, Richard Lutz, Avihu Boneh, Priya S Kishnani

Journal article  |  2014  |  Molecular Genetics and Metabolism

Mutations in LYRM4, encoding ironsulfur 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, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkuehler, David R Thorburn, Alison G Compton

Journal article  |  2013  |  Human Molecular Genetics

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, Rikkert K Wierenga, Avihu Boneh, Naomi Kondo

Journal article  |  2013  |  Molecular Genetics and Metabolism

Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia

M Abacan, A Boneh

Journal article  |  2013  |  Molecular Genetics and Metabolism

Histopathological findings in livers of patients with urea cycle disorders

Joy Yaplito-Lee, Chung-Wo Chow, Avihu Boneh

Journal article  |  2013  |  Molecular Genetics and Metabolism

Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation

S Rodney, A Boneh

Book Chapter  |  2013  |  JIMD Reports

Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders

Thatjana Gardeitchik, Maureen Humphrey, Judy Nation, Avihu Boneh

Journal article  |  2012  |  Journal of Pediatrics

Effect of tetrahydrobiopterin on Phe/Tyr ratios and variation in Phe levels in tetrahydrobiopterin responsive PKU patients

Maureen Humphrey, Judy Nation, Ivan Francis, Avihu Boneh

Journal article  |  2011  |  Molecular Genetics and Metabolism

Diagnosis and management of glutaric aciduria type I - revised recommendations

Stefan Koelker, Ernst Christensen, James V Leonard, Cheryl R Greenberg, Avihu Boneh, Alberto B Burlina, Alessandro P Burlina, Marjorie Dixon, Marinus Duran, Angels Garcia Cazorla, Stephen I Goodman, David M Koeller, Marten Kyllerman, Chris Muehlhausen, Edith Mueler, Juergen G Okun, Bridget Wilcken, Georg F Hoffmann, Peter Burgard

Journal article  |  2011  |  Journal of Inherited Metabolic Disease

Pediatric Mortality Due to Inborn Errors of Metabolism in Victoria, Australia: A Population-Based Study

Himanshu Goel, Allison Lusher, Avihu Boneh

Journal article  |  2010  |  JAMA

The case for newborn screening for congenital adrenal hyperplasia in Australia

Garry L Warne, Katrina L Armstrong, Thomas A Faunce, Bridget M Wilcken, Avihu Boneh, Elizabeth Geelhoed, Maria E Craig

Journal article  |  2010  |  Medical Journal of Australia

Cognitive and social profiles in two patients with cobalamin C disease

MH Beauchamp, V Anderson, A Boneh

Journal article  |  2009  |  Journal of Inherited Metabolic Disease

Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening

MH Beauchamp, A Boneh, V Anderson

Journal article  |  2009  |  Journal of Inherited Metabolic Disease

NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: A COHORT STUDY COMPARING OUTCOME IN SCREENED AND CLINICALLY DIAGNOSED PATIENTS AT SIX YEARS OF AGE

B Wilcken, M Haas, P Joy, VC Wiley, F Bowling, KH Carpenter, J Christodoulou, D Cowley, C Ellaway, JM Fletcher, EP Kirk, B Lewis, J McGill, H Peters, J Pitt, E Ranieri, J Yaplito-Lee, A Boneh

Conference Proceedings  |  2009  |  MOLECULAR GENETICS AND METABOLISM

MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL COA SYNTHASE DEFICIENCY MAY BE RECOGNISED BY INCREASED CONCENTRATIONS OF 4-HYDROXY-6-METHYL-2-PYRONE IN URINARY ORGANIC ACID ANALYSIS

JJ Pitt, H Peters, A Mishra, M Eggington, D Johnson, K Hinderhofer, S Kalb, J Yaplito-Lee, A Cozens, A Boneh, J Zschocke

Conference Proceedings  |  2009  |  MOLECULAR GENETICS AND METABOLISM

A PROPOSAL FOR SICK DAY MANAGEMENT OF CHILDREN WITH THIAMINE RESPONSIVE PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY

JA Nation, A Boneh, M Humphrey

Conference Proceedings  |  2009  |  MOLECULAR GENETICS AND METABOLISM

IMPACT OF INBORN ERRORS OF METABOLISM ON PAEDIATRIC MORTALITY: A POPULATION BASED STUDY

H Goel, A Lusher, A Boneh

Conference Proceedings  |  2009  |  MOLECULAR GENETICS AND METABOLISM

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Francis Bowling, Kevin Carpenter, John Christodoulou, David Cowley, Carolyn Ellaway, Janice Fletcher, Edwin P Kirk, Barry Lewis, Jim McGill, Heidi Peters, James Pitt, Enzo Ranieri, Joy Yaplito-Lee, Avihu Boneh

Journal article  |  2009  |  Pediatrics

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

Kate Gibson, Jane L Halliday, Denise M Kirby, Joy Yaplito-Lee, David R Thorburn, Avihu Boneh

Journal article  |  2008  |  Pediatrics

New indications and controversies in arginine therapy

David Coman, Joy Yaplito-Lee, Avihu Boneh

Journal article  |  2008  |  Clinical Nutrition

A novel single-base substitution (c.1124A > G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

Toshiyuki Fukao, Avihu Boneh, Yusuke Aoki, Naomi Kondo

Journal article  |  2008  |  Molecular Genetics and Metabolism

Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

Avihu Boneh, Miriam Beauchamp, Maureen Humphrey, Jemma Watkins, Heidi Peters, Joy Yaplito-Lee

Journal article  |  2008  |  Molecular Genetics and Metabolism

Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia

A Boneh, S Allan, D Mendelson, M Spriggs, LH Gillam, SH Korman

Journal article  |  2008  |  Molecular Genetics and Metabolism

Ophthalmologic presentation of oxidative phosphorylation diseases of childhood

Loreto VT Rose, Nectarios T Rose, James E Elder, David R Thorburn, Avihu Boneh

Journal article  |  2008  |  Pediatric Neurology

Liver transplantation for argininosuccinic aciduria: Clinical, biochemical, and metabolic outcome

Tanya Newnham, Winita Hardikar, Katrina Allen, R Mark Wellard, Charles Hamilton, Peter Angus, Robert Jones, Avihu Boneh

Journal article  |  2008  |  Liver Transplantation

Cardiac manifestations in oxidative phosphorylation disorders of childhood

J Yaplito-Lee, R Weintraub, K Jamsen, CW Chow, DR Thorburn, A Boneh

Journal article  |  2007  |  Journal of Pediatrics

Outcome of neonatal screening for medium-chain aryl-CoA dehydrogenase deficiency in Australia: a cohort study

Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Meredyth Chaplin, Carly Black, Janice Fletcher, Jim McGill, Avihu Boneh

Journal article  |  2007  |  The Lancet

Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?

Peter J Anderson, Stephen J Wood, Dorothy E Francis, Lee Coleman, Vicki Anderson, Avihu Boneh

Journal article  |  2007  |  Developmental Neuropsychology

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Stanley H Korman, James J Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michele Brivet

Journal article  |  2006  |  Molecular Genetics and Metabolism

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

Stanley H Korman, James J Pitt, Avihu Boneh, Imad Dweikat, Mokhtar Zater, Vardiella Meiner, Alisa Gutman, Michèle Brivet

Journal article  |  2006  |  Molecular Genetics and Metabolism

Three-year audit of the hyperphenylalaninaemia/phenylketonuria spectrum in Victoria

Avihu Boneh, Dorothy EM Francis, Maureen Humphrey, Helen J Upton, Heidi L Peters

Journal article  |  2006  |  Journal of Paediatrics and Child Health

VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

A Boneh, BS Andresen, N Gregersen, M Ibrahim, N Tzanakos, H Peters, J Yaplito-Lee, JJ Pitt

Journal article  |  2006  |  Molecular Genetics and Metabolism

Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms

A Boneh

Journal article  |  2006  |  Cellular and Molecular Life Sciences

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases

J Hui, DM Kirby, DR Thorburn, A Boneh

Journal article  |  2006  |  Developmental Medicine and Child Neurology

Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult

A Boneh, M Baumgartner, M Hayman, H Peters

Journal article  |  2005  |  Journal of Inherited Metabolic Disease

The importance of liver biopsy in the investigation of possible mitochondrial respiratory chain disease

J Panetta, K Gibson, DM Kirby, DR Thorburn, A Boneh

Journal article  |  2005  |  Neuropediatrics

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

A Boneh, SH Korman, K Sato, J Kanno, Y Matsubara, I Lerer, Z Ben-Neriah, S Kure

Journal article  |  2005  |  Journal of Human Genetics

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: Application to diagnosis and implications for the R-pathway of isoleucine oxidation

SH Korman, BS Andresen, A Zeharia, A Gutman, A Boneh, JJ Pitt

Journal article  |  2005  |  Clinical Chemistry

Role of beta-galactoslidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G(M1)-gangliosidosis

A Caciotti, MA Donati, A Boneh, A d'Azzo, A Federico, R Parini, D Antuzzi, T Bardelli, D Nosi, V Kimonis, E Zammarchi, A Morrone

Journal article  |  2005  |  Human Mutation

Body composition in young adults with inborn errors of protein metabolism - A pilot study

G Wilcox, BJG Strauss, DEM Francis, H Upton, A Boneh

Journal article  |  2005  |  Journal of Inherited Metabolic Disease

Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities

PJ Anderson, SJ Wood, DE Francis, L Coleman, L Warwick, S Casanelia, VA Anderson, A Boneh

Journal article  |  2004  |  Developmental Medicine and Child Neurology

The impact of galactosaemia on quality of life - A pilot study

C Lambert, A Boneh

Journal article  |  2004  |  Journal of Inherited Metabolic Disease

Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases

J Panetta, LJ Smith, A Boneh

Journal article  |  2004  |  Journal of Inherited Metabolic Disease

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease

DM Kirby, A Boneh, CW Chow, A Ohtake, MT Ryan, D Thyagarajan, DR Thorburn

Journal article  |  2003  |  Annals of Neurology

Metabolic conditions

A BONEH, GJ PRICE, SG KAHLER, G WERTHER

Book Chapter  |  2003

Diagnostic criteria for respiratory chain disorders in adults and children

FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary, DR Thorburn

Journal article  |  2002  |  Neurology

A model for PKC involvement in the pathogenesis of inborn errors of metabolism

A Boneh

Journal article  |  2002  |  Trends in Molecular Medicine

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, JTR Clarke, A Boneh, A Moser, H Moser, D Valle

Journal article  |  2002  |  Human Mutation

Pamidronate treatment improves bone mineral density in children with Menkes disease

S Kanumakala, A Boneh, M Zacharin

Journal article  |  2002  |  Journal of Inherited Metabolic Disease

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency

A Morrone, S Malvagia, MA Donati, S Funghini, F Ciani, I Pela, A Boneh, H Peters, E Pasquini, E Zammarchi

Journal article  |  2002  |  American Journal of Medical Genetics

How practical are recommendations for dietary control in phenylketonuria?

JH Walter, FJ White, SK Hall, A MacDonald, G Rylance, A Boneh, DE Francis, GJ Shortland, M Schmidt, A Vail

Journal article  |  2002  |  The Lancet

Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease

A Boneh, RF Greaves, G Garra, JJ Pitt

Journal article  |  2002  |  American Journal of Obstetrics and Gynecology

OBJECTIVE: We report the successful treatment of a woman with Cobalamin A disease with hydroxycobalamin injections during pregnanc..

Determination of HLCS genomic structure and mutation identification in four patients with HLCS deficiency

S Malvagia, A Morrone, MA Donati, E Pasquini, S Funghini, A Boneh, H Peters, F Ciani, E Zammarchi

Conference Proceedings  |  2002  |  EUROPEAN JOURNAL OF HUMAN GENETICS

3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing

J Pitt, K Carpenter, B Wilcken, A Boneh

Journal article  |  2002  |  Journal of Inherited Metabolic Disease

Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency

JL Johnson, KE Coyne, KV Rajagopalan, JLK Van Hove, M Mackay, J Pitt, A Boneh

Journal article  |  2001  |  American Journal of Medical Genetics

Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma

MR Oliver, DF Kelly, A Boneh, S Pitsch, H Gold, M Fietz, P Nelson

Journal article  |  2001  |  Journal of Paediatrics and Child Health

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients

L Bouchard, MF Robert, D Vinarov, CA Stanley, GN Thompson, A Morris, JV Leonard, P Quant, BYL Hsu, A Boneh, Y Boukaftane, L Ashmarina, SP Wang, H Miziorko, GA Mitchell

Journal article  |  2001  |  Pediatric Research

Book review:Inborn metabolic diseases: diagnosis and treatment

A BONEH

Journal article  |  2001  |  Journal of Paediatrics and Child Health

Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib

A Boneh, AW Auldist, DEM Francis, S Casanelia, L Warwick, K Tiedemann

Journal article  |  2001  |  Journal of Inherited Metabolic Disease

Endocrinology of the newborn

GL WARNE, P DABADGHAO, A BONEH

Book Chapter  |  2001

Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and Hawkinsinuria

K Tomoeda, H Awata, T Matsuura, I Matsuda, E Ploechl, T Milovac, A Boneh, CR Scott, DH Danks, F Endo

Journal article  |  2000  |  Molecular Genetics and Metabolism

The clinical spectrum of cytochrome c deficiency in Leigh syndrome patients with and without mutations in the SURF1 gene.

HHM Dahl, WM Hutchison, A Dasvarma, K Reed, DM Kirby, A Boneh, J Christodoulou, ML Freckmann, B Wilcken, JJ McGill, JL Fletcher, J Van Hove, DR Thorburn

Journal article  |  2000  |  AMERICAN JOURNAL OF HUMAN GENETICS

Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy

A Ben-Yaacov, J Minichiello, D Newgreen, A Boneh

Journal article  |  2000  |  Journal of Inherited Metabolic Disease

Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatment

H Peters, M Cleary, A Boneh

Journal article  |  1999  |  Journal of Inherited Metabolic Disease

Severe clinical course with recurrent hyperpyrexia in a patient with glutaric aciduria type I

SEP Hauser, A Boneh

Journal article  |  1999  |  Neuropediatrics

Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling

R Saleem, R Gofin, Z Ben-Neriah, A Boneh

Journal article  |  1998  |  Journal of Inherited Metabolic Disease

Diagnostic criteria for respiratory chain disorders in pediatric patients: can we establish consensus criteria?

FP Bernier, X Dennett, CW Chow, MA Cleary, A Boneh, DR Thorburn

Journal article  |  1997  |  AMERICAN JOURNAL OF HUMAN GENETICS