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City Baltimore / Sydney / Washington / DC / Canberra / / Company Fleming / McGraw-Hill / Wilson / Pearson / Cox / / Continent Europe / / Country Australia / United Kingdom / / Facility The Childrens Hospital / / IndustryTerm treatment of metabolic disease / / MedicalCondition Hurler syndrome / Neuromuscular Disorders / Holocarboxylase synthetase deficiency / phenylalanine hydroxylase deficiency / Inherited Metabolic Disease / Rare Diseases / phosphomannomutase deficiency / human disorder / Tetrahydrobiopterin-responsive phenylketonuria / early-onset encephalopathy / Myopathy / Seizures / lethal autosomal-recessive disorder / gross ketosis / Recurrent Infections / CDKL5 disorder / Leigh-like Syndrome / transcobalamin deficiency / deafness / Early onset seizures / Phenylketonuria / congenital cataracts / Hearing loss / scoliosis / Maternal Riboflavin Deficiency / Severe Subacute Necrotizing Encephalopathy / mitochondrial DNA depletion syndrome / Turner Syndrome / ataxia / cerebral palsy / Mitochondrial dysfunction / Lesch-Nyhan disease / mental retardation / Mecp2 deficiency / disease / ornithine transcarbamylase deficiency / Mitochondrial Respiratory Chain Disorders / YARS2 mitochondrial myopathy / mitochondrial fatty acid Oxidation disorders / mitochondrial disease / Early progressive encephalopathy / Pediatric Epilepsy / Rheumatic Diseases / Arts Syndrome / infantile mitochondrial disease / menkes disease / seizure / Leigh Syndrome / Spinocerebella ataxia type / lactic acidosis / Transient multiple acyl-CoA dehydrogenation deficiency / Related Disorders / Costeff optic atrophy syndrome / PKU / Epilepsy / Sideroblastic Anemia-MLASA Syndrome / Congenital disorder / inborn errors of metabolism / IV Deficiency / deficiency / metabolic disease / lethal neonatal mitochondrial disease / insulin-responsive hyperglycemia / metabolic disorder / Genetic Metabolic Disorders / Sleep dysfunction / Pulmonary hypertension A / nonketotic hyperglycinemia / human disease / Syndrome / / MedicalTreatment Gene Therapy / / Organization Rett / Childrens Hospital / Australian Government National Health and Medical Research Council / / Person Marcel Dekker / Cybele Dey / Ben Zeev / Maurizio Podda / Kathryn Currow / Mansour / David Isaacs / Williamson / John Christodoulou / Wendy Hu / de Klerk / Al Raisi / Foley / / Position Archer / Walker / General / Carpenter / / ProvinceOrState New South Wales / / PublishedMedium American Journal of Human Genetics / PLoS Genetics / PloS One / The Journal of Neuroscience / Journal of Neuroscience / Nucleic Acids Research / European Journal of Human Genetics / The Clinicians Guide / / RadioStation Rudolph AM / / Region South Wales / Mediterranean / / Technology Genomics / Neuroscience / Proteomics / Transplantation / Gene Therapy / genotype / / SocialTag 
Publications for John Christodoulou[removed]Lim, S., Smith, K., Stroud, D., Compton, A., Tucker, E., Dasvarma, A., Gandolfo, L., Marum, J., McKenzie, M., Peters, H., Procopis, P., Wilcken, B., Christodoulou, J., et al (201