John Christodoulou Selected Research

nulibry

11/2015	Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
9/2014	Inborn errors of purine metabolism: clinical update and therapies.

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John Christodoulou Research Topics

Disease

23	Rett Syndrome (Rett's Disorder) 06/2022 - 10/2003
14	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 12/2011
14	Parkinson Disease (Parkinson's Disease) 11/2019 - 01/2005
13	Neurodevelopmental Disorders 06/2022 - 10/2003
7	Phenylketonurias (Phenylketonuria) 01/2020 - 12/2005
7	Amyloidosis 12/2019 - 09/2005
6	Nervous System Diseases (Neurological Disorders) 01/2022 - 04/2010
5	Seizures (Absence Seizure) 01/2017 - 01/2012
4	Arts syndrome 03/2021 - 04/2010
4	Leigh Disease (Leigh's Disease) 01/2019 - 09/2011
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2019 - 10/2008
4	Hearing Loss (Hearing Impairment) 01/2013 - 04/2010
3	Muscular Diseases (Myopathy) 01/2022 - 07/2010
3	Intellectual Disability (Idiocy) 01/2022 - 04/2010
3	Muscle Hypotonia (Hypotonia) 01/2021 - 04/2010
3	Malnutrition (Nutritional Deficiencies) 01/2019 - 04/2014
3	Scoliosis 01/2017 - 09/2006
3	Deafness (Deaf Mutism) 04/2015 - 12/2011
3	Lactic Acidosis 12/2013 - 07/2010
2	Acute Liver Failure (Fulminant Hepatic Failure) 05/2022 - 01/2019
2	Neoplasms (Cancer) 01/2022 - 09/2014
2	CDKL5 deficiency disorder 01/2021 - 11/2016
2	Liver Diseases (Liver Disease) 12/2020 - 10/2012
2	Cardiovascular Diseases (Cardiovascular Disease) 01/2019 - 03/2003
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2017 - 11/2013
2	Infantile Spasms (West Syndrome) 11/2016 - 02/2012
2	Nonketotic Hyperglycinemia 03/2016 - 04/2006
2	Renal Insufficiency (Renal Failure) 01/2016 - 04/2015
2	Myopathy with lactic acidosis and sideroblastic anemia 12/2013 - 07/2010
2	Amyloid Plaque 12/2009 - 09/2005
2	Coronary Artery Disease (Coronary Atherosclerosis) 03/2003 - 02/2003
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 03/2021
1	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 03/2021
1	Frontotemporal Dementia (Semantic Dementia) 03/2021
1	Obesity 01/2021
1	Chronic Obstructive Pulmonary Disease (COPD) 12/2020
1	Spasm (Spasms) 11/2020
1	Critical Illness (Critically Ill) 11/2020
1	Epilepsy (Aura) 11/2020

Drug/Important Bio-Agent (IBA)

25	Proteins (Proteins, Gene)FDA Link 06/2022 - 12/2005
11	Methyl-CpG-Binding Protein 2IBA 06/2022 - 10/2003
8	SynucleinsIBA 03/2021 - 09/2010
7	Mitochondrial DNA (mtDNA)IBA 01/2021 - 09/2011
6	Muramidase (Lysozyme)IBA 11/2017 - 09/2005
6	EnzymesIBA 01/2017 - 07/2009
6	alpha-SynucleinIBA 03/2010 - 01/2005
5	Intrinsically Disordered ProteinsIBA 01/2022 - 01/2005
5	Phenylalanine (L-Phenylalanine)FDA Link 04/2014 - 12/2005
4	S-Adenosylmethionine (Ademetionine)IBA 03/2021 - 04/2010
4	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 07/2010
4	Adenosine Triphosphate (ATP)IBA 10/2020 - 12/2009
4	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2020 - 11/2013
4	Amyloid (Amyloid Fibrils)IBA 11/2017 - 03/2010
3	Cyclin-Dependent Kinases (cdk Proteins)IBA 01/2021 - 04/2010
3	RNA (Ribonucleic Acid)IBA 01/2021 - 11/2020
3	Amino Acids FDA Link 01/2020 - 05/2007
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2020 - 12/2016
3	Pharmaceutical PreparationsIBA 11/2019 - 09/2007
3	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2019 - 01/2011
3	CalciumIBA 03/2006 - 02/2003
2	CyclinsIBA 01/2022 - 11/2016
2	UbiquitinIBA 01/2022 - 03/2021
2	Kainic Acid Receptors (Kainate Receptor)IBA 11/2021 - 01/2021
2	NAD (NADH)IBA 01/2020 - 01/2019
2	Hydro-Lyases (Dehydratases)IBA 01/2020 - 01/2019
2	Biological ProductsIBA 01/2020 - 12/2019
2	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 01/2017
2	4,6-dinitro-o-cresol (DNOC)IBA 01/2019 - 01/2013
2	Dihydrotachysterol (AT 10)IBA 05/2016 - 09/2006
2	Crystallins (Crystallin)IBA 04/2016 - 03/2010
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2016 - 04/2006
2	nulibryIBA 11/2015 - 09/2014
2	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 09/2014 - 02/2012
2	sapropterin (tetrahydrobiopterin)FDA Link 01/2014 - 12/2005
2	Tyrosine-tRNA LigaseIBA 12/2013 - 07/2010
2	Nonsense Codon (Nonsense Mutation)IBA 11/2013 - 11/2005
2	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 08/2013 - 01/2013
2	Uric Acid (Urate)IBA 02/2012 - 04/2010
2	Purine NucleotidesIBA 12/2011 - 04/2010
1	Complementary DNA (cDNA)IBA 05/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 01/2022
1	GTP-Binding Proteins (G-Protein)IBA 01/2022
1	Growth Differentiation Factor 15IBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	fibroblast growth factor 21IBA 01/2022
1	Cell-Penetrating PeptidesIBA 01/2022
1	nicotinamide-beta-ribosideIBA 03/2021
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	ChromatinIBA 01/2021
1	Serine Proteinase Inhibitors (Serine Protease Inhibitors)IBA 12/2020
1	Adrenocorticotropic Hormone (ACTH)FDA Link 11/2020
1	Prednisolone (Predate)FDA LinkGeneric 11/2020
1	Felbamate (Felbatol)FDA Link 11/2020
1	Clobazam (HR 376)IBA 11/2020

Therapy/Procedure

14	Therapeutics 01/2022 - 10/2003
2	Gastrostomy 01/2018 - 12/2014
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/2014 - 08/2002