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

The Journal of pediatrics, 2017-09, Vol.188, p.163-172

2017

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

Molecular genetics and metabolism, 2016-08, Vol.118 (4), p.282-287

2016

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Human molecular genetics, 2013-11, Vol.22 (22), p.4460-4473

2013

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Diagnosis and management of glutaric aciduria type I – revised recommendations

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694

2011

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

The Lancet (British edition), 2007-01, Vol.369 (9555), p.37-42

2007

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New indications and controversies in arginine therapy

Clinical nutrition (Edinburgh, Scotland), 2008-08, Vol.27 (4), p.489-496

2008

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Expanded newborn screening: outcome in screened and unscreened patients at age 6 years

Pediatrics (Evanston), 2009-08, Vol.124 (2), p.e241-e248

2009

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.459-466

2015

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

The Journal of pediatrics, 2012-08, Vol.161 (2), p.328-332

2012

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Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses

Pediatrics (Evanston), 2008-11, Vol.122 (5), p.1003-1008

2008

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

Molecular genetics and metabolism, 2011-09, Vol.104 (1-2), p.89-92

2011

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

JIMD reports, 2022-11, Vol.63 (6), p.568-574

2022

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

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.729-740

Boneh, Avihu

2015

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

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.109-112

Boneh, Avihu

2014

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

The Journal of clinical investigation, 2004-09, Vol.114 (6), p.837-845

2004

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

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.36-42

2017

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

Annals of neurology, 2003-10, Vol.54 (4), p.473-478

2003

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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

Cell, 2008-07, Vol.134 (1), p.112-123

2008

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

Journal of child neurology, 2014-11, Vol.29 (11), p.1496-1501

2014

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Data Resource Profile: Melbourne Children's LifeCourse initiative (LifeCourse)

International journal of epidemiology, 2022-10, Vol.51 (5), p.e229-e244

2022

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Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.168-173

2015

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

Molecular genetics and metabolism, 2014-08, Vol.112 (4), p.247-258

2014

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Ophthalmologic Presentation of Oxidative Phosphorylation Diseases of Childhood

Pediatric neurology, 2008-06, Vol.38 (6), p.395-397

2008

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Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

Journal of Pediatric Endocrinology and Metabolism, 2018-03, Vol.31 (4), p.451-459

2018

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

Journal of human genetics, 2005-05, Vol.50 (5), p.230-234

2005

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

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

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Diagnosis and management of glutaric aciduria type I – revised recommendations

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

New indications and controversies in arginine therapy

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

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

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses

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

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

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

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

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

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

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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

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

Data Resource Profile: Melbourne Children's LifeCourse initiative (LifeCourse)

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

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

Ophthalmologic Presentation of Oxidative Phosphorylation Diseases of Childhood

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates

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

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