Mario Mastrangelo Selected Research

Pyridoxamine

1/2012

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

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Mario Mastrangelo Research Topics

Disease

13	Epilepsy (Aura) 11/2023 - 02/2013
9	Brain Diseases (Brain Disorder) 02/2024 - 01/2012
7	Seizures (Absence Seizure) 02/2024 - 01/2014
5	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 03/2023 - 01/2017
5	Neurodevelopmental Disorders 01/2023 - 01/2015
3	Intellectual Disability (Idiocy) 08/2023 - 02/2013
3	Aromatic amino acid decarboxylase deficiency 01/2020 - 04/2013
2	Hypophosphatasia 03/2023 - 11/2019
2	Rare Diseases (Rare Disease) 01/2023 - 11/2021
2	Stroke (Strokes) 01/2022 - 01/2022
2	due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia 11/2021 - 01/2020
1	Rett Syndrome (Rett's Disorder) 08/2023
1	Hyperprolinemia type 2 03/2023
1	type 1 familial Hypocalciuric hypercalcemia 01/2023
1	Sleepiness 01/2023
1	Fatigue 01/2023
1	Hypercalcemia (Milk Alkali Syndrome) 01/2023
1	Hypotension (Low Blood Pressure) 01/2023
1	Syncope (Fainting) 01/2023
1	Angelman Syndrome (Syndrome, Angelman) 01/2023
1	Sudden Unexpected Death in Epilepsy 10/2022
1	Disease Progression 10/2022
1	COVID-19 06/2022
1	Nervous System Diseases (Neurological Disorders) 06/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2022
1	Ischemic Stroke 01/2022
1	Congenital Disorders of Glycosylation 01/2022
1	MELAS Syndrome (Syndrome, MELAS) 01/2022
1	Fabry Disease (Fabry's Disease) 01/2022
1	succinic semialdehyde dehydrogenase deficiency 11/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2021
1	Nonketotic Hyperglycinemia 01/2021
1	Movement Disorders (Movement Disorder) 01/2021
1	Epileptic Syndromes 01/2021
1	Tuberous Sclerosis (Bourneville's Disease) 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	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 12/2019
1	Epilepsia Partialis Continua 12/2019
1	Hyperkinesis 11/2019
1	Molybdenum cofactor deficiency 01/2018
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2018
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 01/2018

Drug/Important Bio-Agent (IBA)

6	Neurotransmitter Agents (Neurotransmitter)IBA 10/2022 - 01/2015
5	Pyridoxine (Pyridoxin)FDA LinkGeneric 03/2023 - 01/2017
3	Serine (L-Serine)FDA Link 02/2024 - 01/2018
3	Carrier Proteins (Binding Protein)IBA 03/2023 - 01/2012
3	Dopamine (Intropin)FDA LinkGeneric 10/2022 - 01/2017
3	Anticonvulsants (Antiepileptic Drugs)IBA 01/2018 - 05/2012
2	VitaminsIBA 03/2023 - 01/2018
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 03/2023 - 11/2019
2	Epinephrine (Adrenaline)FDA LinkGeneric 01/2020 - 01/2017
2	Serotonin (5 Hydroxytryptamine)IBA 01/2020 - 01/2017
2	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2020 - 01/2017
2	Sodium Channels (Sodium Channel)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	Valproic Acid (Depakote)FDA LinkGeneric 11/2023
1	Proteins (Proteins, Gene)FDA Link 08/2023
1	mesoglycanIBA 03/2023
1	UbiquitinIBA 01/2023
1	CalciumIBA 01/2023
1	Dopa DecarboxylaseIBA 01/2023
1	Ligases (Synthetase)IBA 01/2023
1	ProlactinIBA 01/2023
1	Calcium-Sensing ReceptorsIBA 01/2023
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 01/2023
1	Carboxy-LyasesIBA 10/2022
1	Amino Acids FDA Link 10/2022
1	Biomarkers (Surrogate Marker)IBA 10/2022
1	Biogenic Amines (Biogenic Amine)IBA 10/2022
1	Arginine (L-Arginine)FDA Link 01/2022
1	Adenosine DeaminaseIBA 01/2022
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 11/2021
1	Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA 11/2021
1	Monoamine Oxidase (MAO)IBA 11/2021
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 09/2021
1	gamma-Aminobutyric Acid (GABA)IBA 01/2021
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2021
1	MTOR InhibitorsIBA 01/2021
1	TOR Serine-Threonine KinasesIBA 01/2021
1	Neurotransmitter Receptors (Neurotransmitter Receptor)IBA 01/2021
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2021
1	Guanosine Triphosphate (GTP)IBA 01/2020
1	Dopamine Agonists (Dopamine Agonist)IBA 01/2020
1	Adrenal Cortex Hormones (Corticosteroids)IBA 12/2019
1	SaltsIBA 12/2019
1	Immunoglobulins (Immunoglobulin)IBA 12/2019
1	Adenylosuccinate lyase deficiencyIBA 12/2019
1	Vitamin B 6IBA 11/2019
1	Insulin (Novolin)FDA Link 03/2019
1	Pyridoxaminephosphate OxidaseIBA 12/2018
1	Facilitative Glucose Transport Proteins (Glucose Transporter)IBA 01/2018

Therapy/Procedure

5	Therapeutics 01/2022 - 01/2015
1	Continuity of Patient Care 06/2022
1	Precision Medicine 01/2022
1	Ketogenic Diet 12/2020