Phillip L Pearl Selected Research

pyridoxine 5-phosphate

1/2013

Partial Pyridoxine Responsiveness in PNPO Deficiency.

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Phillip L Pearl Research Topics

Disease

34	succinic semialdehyde dehydrogenase deficiency 02/2022 - 01/2003
28	Epilepsy (Aura) 04/2022 - 09/2005
15	Seizures (Absence Seizure) 01/2022 - 01/2003
7	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022 - 02/2006
7	Brain Diseases (Brain Disorder) 11/2021 - 01/2016
7	Gamma aminobutyric acid transaminase deficiency 01/2019 - 03/2004
5	Pyridoxine-dependent epilepsy 01/2021 - 03/2004
4	Ataxia (Dyssynergia) 02/2022 - 12/2005
4	Infantile Spasms (West Syndrome) 01/2021 - 02/2009
4	Aromatic amino acid decarboxylase deficiency 01/2017 - 03/2004
3	Inborn Genetic Diseases (Disease, Hereditary) 02/2022 - 09/2006
3	Drug Resistant Epilepsy 11/2021 - 01/2020
3	autosomal recessive Segawa syndrome 05/2007 - 03/2004
3	Nonketotic Hyperglycinemia 05/2007 - 12/2005
2	Intellectual Disability (Idiocy) 02/2022 - 12/2005
2	Muscle Hypotonia (Hypotonia) 02/2022 - 04/2010
2	Partial Epilepsies (Epilepsy, Partial) 11/2021 - 01/2018
2	Nervous System Diseases (Neurological Disorders) 01/2021 - 01/2016
2	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2013 - 11/2006
2	Traumatic Brain Injuries (Traumatic Brain Injury) 10/2012 - 08/2012
2	Cleft Lip (Harelip) 05/2007 - 09/2006
2	Homocarnosinosis 09/2006 - 04/2004
2	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 05/2005 - 11/2003
1	Confusion (Bewilderment) 11/2021
1	Sudden Unexpected Death in Epilepsy 11/2021
1	Parkinson Disease (Parkinson's Disease) 01/2021
1	Brain Injuries (Brain Injury) 01/2020
1	Disorders of Excessive Somnolence (Hypersomnia) 01/2019
1	Movement Disorders (Movement Disorder) 01/2019
1	Edema (Dropsy) 01/2018
1	Anemia 11/2017
1	Failure to Thrive 11/2017
1	Channelopathies 03/2016
1	Inborn Urea Cycle Disorders 01/2016
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2016
1	Molybdenum cofactor deficiency 01/2016
1	Lennox Gastaut Syndrome 09/2014
1	MELAS Syndrome (Syndrome, MELAS) 09/2014
1	Lactic Acidosis 09/2014

Drug/Important Bio-Agent (IBA)

34	gamma-Aminobutyric Acid (GABA)IBA 02/2022 - 01/2003
19	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 11/2021 - 01/2003
14	Biomarkers (Surrogate Marker)IBA 04/2022 - 07/2015
11	Neurotransmitter Agents (Neurotransmitter)IBA 02/2022 - 03/2002
9	Aminobutyrates (Aminobutyric Acid)IBA 02/2022 - 12/2010
8	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2022 - 12/2005
6	AcidsIBA 11/2021 - 01/2003
4	Dopamine (Intropin)FDA LinkGeneric 01/2021 - 10/2003
4	Oxidoreductases (Dehydrogenase)IBA 01/2021 - 05/2007
4	Serotonin (5 Hydroxytryptamine)IBA 01/2017 - 10/2003
4	Glycine (Aminoacetic Acid)FDA LinkGeneric 10/2015 - 12/2005
3	EnzymesIBA 11/2021 - 01/2003
3	Vigabatrin FDA Link 01/2021 - 02/2009
3	Aromatic-L-Amino-Acid DecarboxylasesIBA 01/2021 - 11/2006
3	Butyric Acid (Butanoic Acid)IBA 01/2019 - 05/2007
3	4-hydroxybutyric acidIBA 01/2019 - 05/2007
3	Anticonvulsants (Antiepileptic Drugs)IBA 11/2016 - 09/2006
3	Levetiracetam (Keppra)FDA LinkGeneric 09/2013 - 08/2012
2	VitaminsIBA 01/2022 - 01/2016
2	Pharmaceutical PreparationsIBA 01/2022 - 01/2016
2	GABA-B Receptor AntagonistsIBA 11/2021 - 10/2011
2	Proteins (Proteins, Gene)FDA Link 11/2016 - 03/2003
2	Taurine FDA Link 01/2016 - 03/2014
2	Leucovorin (Folinic Acid)FDA Link 01/2016 - 01/2013
2	Folic Acid (Vitamin M)FDA LinkGeneric 01/2016 - 11/2006
2	Levodopa (L Dopa)FDA LinkGeneric 01/2014 - 11/2006
2	GABA-B ReceptorsIBA 07/2012 - 10/2011
2	Methylphenidate (Ritalin)FDA LinkGeneric 05/2005 - 11/2003
1	(3-aminopropyl)(n-butyl)phosphinic acidIBA 11/2021
1	Lysine (L-Lysine)FDA Link 01/2021
1	Losartan (Cozaar)FDA LinkGeneric 01/2018
1	Adenosine (Adenocard)FDA LinkGeneric 01/2018
1	AlbuminsIBA 01/2018
1	AntibodiesIBA 01/2018
1	Isoflurane FDA LinkGeneric 01/2018
1	HMGB1 Protein (HMG1)IBA 01/2018
1	Alkaline PhosphataseIBA 11/2017
1	Norepinephrine (Noradrenaline)FDA LinkGeneric 01/2017
1	Epinephrine (Adrenaline)FDA LinkGeneric 01/2017
1	ezogabine (retigabine)IBA 10/2016
1	Phenobarbital (Luminal)FDA Link 03/2016
1	Glucose (Dextrose)FDA LinkGeneric 01/2016
1	Anesthetics (Anesthetic Agents)IBA 01/2016
1	Sodium Channels (Sodium Channel)IBA 01/2016
1	Thiamine (Aneurin)FDA Link 01/2016
1	Serine (L-Serine)FDA Link 01/2016
1	Biotin (Vitamin H)FDA Link 01/2016
1	CreatineIBA 01/2016
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2016
1	NeopterinIBA 10/2015
1	Mitochondrial DNA (mtDNA)IBA 09/2014

Therapy/Procedure

12	Therapeutics 01/2022 - 05/2005
3	Transcranial Magnetic Stimulation 11/2021 - 07/2012
1	Drug Therapy (Chemotherapy) 01/2022
1	Enzyme Replacement Therapy 11/2021
1	Electrodes (Electrode) 11/2021
1	Extracorporeal Membrane Oxygenation 01/2020
1	Topical Administration 01/2018
1	Length of Stay 01/2018
1	Ketogenic Diet 11/2016