Vincenzo Leuzzi Selected Research

Arginine-Glycine Amidinotransferase Deficiency

2/2013	Inborn errors of creatine metabolism and epilepsy.
6/2006	Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
2/2006	Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.

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Vincenzo Leuzzi Research Topics

Disease

20	Intellectual Disability (Idiocy) 03/2022 - 12/2002
18	Phenylketonurias (Phenylketonuria) 11/2021 - 03/2013
12	Epilepsy (Aura) 03/2022 - 12/2002
11	Seizures (Absence Seizure) 01/2022 - 02/2011
10	Movement Disorders (Movement Disorder) 01/2022 - 12/2002
10	Brain Diseases (Brain Disorder) 01/2021 - 01/2012
6	Guanidinoacetate methyltransferase deficiency 06/2022 - 01/2006
6	Parkinsonian Disorders (Parkinsonism) 01/2022 - 04/2014
6	Ataxia (Dyssynergia) 11/2021 - 09/2012
6	Neurodevelopmental Disorders 09/2021 - 01/2015
3	Dyskinesias (Dyskinesia) 01/2022 - 04/2017
3	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021 - 08/2015
3	Dystonia (Limb Dystonia) 11/2021 - 04/2014
3	Homocystinuria 03/2020 - 09/2015
3	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 12/2018 - 01/2017
3	Ataxia Telangiectasia (Louis Bar Syndrome) 01/2018 - 09/2012
3	Cognitive Dysfunction 01/2018 - 02/2013
2	Fabry Disease (Fabry's Disease) 01/2022 - 04/2021
2	Stroke (Strokes) 01/2022 - 01/2022
2	Congenital Disorders of Glycosylation 01/2022 - 01/2022
2	Rare Diseases (Rare Disease) 11/2021 - 08/2015
2	Inborn Genetic Diseases (Disease, Hereditary) 09/2021 - 11/2014
2	Muscle Hypotonia (Hypotonia) 01/2021 - 04/2016
2	autosomal recessive Segawa syndrome 01/2021 - 06/2010
2	Cerebellar Ataxia (Dysmetria) 01/2021 - 11/2019
2	Aromatic amino acid decarboxylase deficiency 01/2020 - 04/2013
2	Hyperkinesis 11/2019 - 04/2017
2	Chronic Brain Damage 12/2015 - 05/2012
2	Ethylmalonic encephalopathy 12/2015 - 05/2012
2	Purpura 12/2015 - 05/2012
2	Language Disorders (Language Disorder) 02/2013 - 12/2002
1	Type I 3-Methylglutaconic Aciduria 04/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022
1	MELAS Syndrome (Syndrome, MELAS) 01/2022
1	Ischemic Stroke 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Nervous System Diseases (Neurological Disorders) 01/2022
1	Cardiomyopathies (Cardiomyopathy) 11/2021
1	Deafness (Deaf Mutism) 11/2021
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 09/2021
1	Lupus Nephritis 04/2021
1	Proteinuria 04/2021
1	Epileptic Syndromes 01/2021
1	Alternating hemiplegia of childhood 01/2021
1	Dystonia 12 01/2021
1	Optic Atrophy 01/2021
1	Migraine with Aura (Familial Hemiplegic Migraine) 01/2021
1	Tuberous Sclerosis (Bourneville's Disease) 01/2021

Drug/Important Bio-Agent (IBA)

11	CreatineIBA 06/2022 - 12/2002
11	Phenylalanine (L-Phenylalanine)FDA Link 11/2021 - 03/2013
9	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 11/2021 - 03/2013
8	Neurotransmitter Agents (Neurotransmitter)IBA 01/2022 - 04/2014
7	Pharmaceutical PreparationsIBA 03/2022 - 02/2011
5	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 06/2022 - 12/2002
5	sapropterin (tetrahydrobiopterin)FDA Link 01/2021 - 03/2013
5	creatine transporterIBA 02/2013 - 12/2002
4	Dopamine (Intropin)FDA LinkGeneric 01/2022 - 04/2014
4	EnzymesIBA 01/2022 - 01/2014
4	Proteins (Proteins, Gene)FDA Link 01/2022 - 06/2010
3	glycocyamineIBA 06/2022 - 02/2013
3	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/2021 - 04/2014
3	Biogenic Amines (Biogenic Amine)IBA 09/2020 - 08/2015
3	Levodopa (L Dopa)FDA LinkGeneric 01/2020 - 06/2010
3	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2018 - 01/2017
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 02/2013
3	Dexamethasone (Maxidex)FDA LinkGeneric 01/2018 - 01/2014
3	Arginine-Glycine Amidinotransferase DeficiencyIBA 02/2013 - 02/2006
3	glycine amidinotransferase (arginine-glycine amidinotransferase)IBA 02/2013 - 12/2002
2	AcidsIBA 06/2022 - 06/2010
2	Tyrosine (L-Tyrosine)FDA Link 11/2021 - 01/2014
2	Aromatic-L-Amino-Acid DecarboxylasesIBA 09/2021 - 01/2021
2	coenzyme Q10 (CoQ10)IBA 09/2021 - 11/2019
2	Sodium Channels (Sodium Channel)IBA 11/2019 - 01/2012
2	BiopterinsIBA 07/2017 - 08/2015
2	Oxidoreductases (Dehydrogenase)IBA 01/2017 - 01/2012
2	X-linked Creatine deficiencyIBA 10/2016 - 01/2014
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 12/2015 - 05/2012
1	methylglutaconyl-CoA hydrataseIBA 04/2022
1	Leucine (L-Leucine)FDA Link 04/2022
1	Caffeine (No Doz)FDA LinkGeneric 01/2022
1	Arginine (L-Arginine)FDA Link 01/2022
1	DolicholsIBA 01/2022
1	Adenosine DeaminaseIBA 01/2022
1	Glycoproteins (Glycoprotein)IBA 01/2022
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2021
1	UbiquitinIBA 11/2021
1	MethyltransferasesIBA 11/2021
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2021
1	Histone MethyltransferasesIBA 11/2021
1	Lysine (L-Lysine)FDA Link 11/2021
1	Monoamine Oxidase (MAO)IBA 11/2021
1	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 04/2021
1	TOR Serine-Threonine KinasesIBA 01/2021
1	MTOR InhibitorsIBA 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2021
1	Protein Isoforms (Isoforms)IBA 01/2021
1	Valine (L-Valine)FDA Link 01/2021

Therapy/Procedure

11	Therapeutics 01/2022 - 09/2012