Mario Mastrangelo Selected Research

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

11/2019	Update on the treatment of vitamin B6 dependent epilepsies.
12/2018	Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
12/2017	Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
1/2017	Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

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Mario Mastrangelo Research Topics

Disease

10	Epilepsy (Aura) 03/2022 - 02/2013
8	Brain Diseases (Brain Disorder) 12/2020 - 08/2010
8	Seizures (Absence Seizure) 12/2019 - 08/2010
4	Neurodevelopmental Disorders 06/2022 - 01/2015
4	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 11/2019 - 01/2017
3	Aromatic amino acid decarboxylase deficiency 01/2020 - 04/2013
2	Intellectual Disability (Idiocy) 03/2022 - 02/2013
2	Stroke (Strokes) 01/2022 - 01/2022
2	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021 - 01/2020
2	Movement Disorders (Movement Disorder) 01/2021 - 02/2013
1	COVID-19 06/2022
1	Nervous System Diseases (Neurological Disorders) 06/2022
1	Fabry Disease (Fabry's Disease) 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Ischemic Stroke 01/2022
1	MELAS Syndrome (Syndrome, MELAS) 01/2022
1	Congenital Disorders of Glycosylation 01/2022
1	Rare Diseases (Rare Disease) 11/2021
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2021
1	Nonketotic Hyperglycinemia 01/2021
1	Tuberous Sclerosis (Bourneville's Disease) 01/2021
1	Epileptic Syndromes 01/2021
1	Pyruvate Kinase Deficiency of Red Cells 12/2020
1	Dyskinesias (Dyskinesia) 01/2020
1	Sleep Initiation and Maintenance Disorders (Insomnia) 01/2020
1	Vomiting 01/2020
1	Epilepsia Partialis Continua 12/2019
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 12/2019
1	Hypophosphatasia 11/2019
1	Hyperkinesis 11/2019
1	Molybdenum cofactor deficiency 01/2018
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018
1	Diplopia (Double Vision) 09/2017
1	Central Nervous System Infections (Central Nervous System Infection) 01/2014
1	Febrile Seizures (Febrile Seizure) 01/2014
1	Language Disorders (Language Disorder) 02/2013
1	Guanidinoacetate methyltransferase deficiency 02/2013
1	Wilms Tumor (Wilm's Tumor) 09/2012
1	Non-Small-Cell Lung Carcinoma (Carcinoma, Non-Small Cell Lung) 09/2012
1	Lung Neoplasms (Lung Cancer) 09/2012
1	Status Epilepticus (Complex Partial Status Epilepticus) 05/2012

Drug/Important Bio-Agent (IBA)

5	Neurotransmitter Agents (Neurotransmitter)IBA 01/2022 - 01/2015
4	Pharmaceutical PreparationsIBA 03/2022 - 08/2010
4	Pyridoxine (Pyridoxin)FDA LinkGeneric 11/2019 - 01/2017
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 05/2012
2	Serine (L-Serine)FDA Link 01/2021 - 01/2018
2	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2020 - 01/2017
2	Serotonin (5 Hydroxytryptamine)IBA 01/2020 - 01/2017
2	Epinephrine (Adrenaline)FDA LinkGeneric 01/2020 - 01/2017
2	Dopamine (Intropin)FDA LinkGeneric 01/2020 - 01/2017
2	Sodium Channels (Sodium Channel)IBA 11/2019 - 01/2012
2	Carrier Proteins (Binding Protein)IBA 11/2019 - 01/2012
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2019 - 01/2018
2	CreatineIBA 01/2018 - 02/2013
2	Oxidoreductases (Dehydrogenase)IBA 01/2017 - 01/2012
1	Adenosine DeaminaseIBA 01/2022
1	Arginine (L-Arginine)FDA Link 01/2022
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/2021
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2021
1	Monoamine Oxidase (MAO)IBA 11/2021
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 09/2021
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2021
1	gamma-Aminobutyric Acid (GABA)IBA 01/2021
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2021
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2021
1	TOR Serine-Threonine KinasesIBA 01/2021
1	MTOR InhibitorsIBA 01/2021
1	Guanosine Triphosphate (GTP)IBA 01/2020
1	Dopamine Agonists (Dopamine Agonist)IBA 01/2020
1	Adenylosuccinate lyase deficiencyIBA 12/2019
1	Adrenal Cortex Hormones (Corticosteroids)IBA 12/2019
1	Immunoglobulins (Immunoglobulin)IBA 12/2019
1	SaltsIBA 12/2019
1	Vitamin B 6IBA 11/2019
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 11/2019
1	Insulin (Novolin)FDA Link 03/2019
1	Pyridoxaminephosphate OxidaseIBA 12/2018
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 01/2018
1	VitaminsIBA 01/2018
1	diethylstilbestrol monophosphate (PDES)IBA 01/2018
1	ElectrolytesIBA 01/2014
1	rotigotine FDA Link 04/2013
1	creatine transporterIBA 02/2013
1	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 02/2013
1	glycine amidinotransferase (arginine-glycine amidinotransferase)IBA 02/2013
1	glycocyamineIBA 02/2013
1	Arginine-Glycine Amidinotransferase DeficiencyIBA 02/2013
1	DNA (Deoxyribonucleic Acid)IBA 09/2012
1	Tumor Suppressor Proteins (Proteins, Tumor Suppressor)IBA 09/2012
1	Phospholipases (Phospholipase)IBA 01/2012
1	PyridoxamineIBA 01/2012
1	Cyclin-Dependent Kinases (cdk Proteins)IBA 01/2012
1	Qa-SNARE Proteins (Syntaxin)IBA 01/2012
1	Guanylate KinasesIBA 01/2012

Therapy/Procedure

5	Therapeutics 01/2022 - 01/2015
1	Continuity of Patient Care 06/2022
1	Ketogenic Diet 12/2020
1	Telescopes 09/2017