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Keith Hyland Selected Research

Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency

1/2015Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
3/2013Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
1/2013Partial Pyridoxine Responsiveness in PNPO Deficiency.
3/2011Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
6/2008Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

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Keith Hyland Research Topics

Disease

10Seizures (Absence Seizure)
01/2019 - 12/2002
8Pyridoxine-dependent epilepsy
01/2021 - 05/2009
7Epilepsy (Aura)
01/2021 - 12/2002
5Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
01/2015 - 06/2008
4Inborn Genetic Diseases (Disease, Hereditary)
12/2021 - 01/2013
4Brain Diseases (Brain Disorder)
01/2019 - 05/2009
4Autistic Disorder (Autism)
01/2016 - 07/2008
4Muscle Hypotonia (Hypotonia)
01/2013 - 01/2012
3Malaria
10/2021 - 03/2015
3Aromatic amino acid decarboxylase deficiency
01/2021 - 03/2004
3Intellectual Disability (Idiocy)
01/2021 - 07/2008
3Phenylketonurias (Phenylketonuria)
01/2019 - 01/2007
3Movement Disorders (Movement Disorder)
02/2015 - 12/2006
3due to Sepiapterin Reductase Deficiency Dopa-Responsive Dystonia
04/2012 - 12/2006
3Neuroblastoma
07/2010 - 12/2004
2Cerebral Malaria
10/2021 - 03/2015
2Coma (Comas)
10/2021 - 11/2011
2Falciparum Malaria (Plasmodium falciparum Malaria)
03/2015 - 03/2015
2Dopa-responsive Dystonia
01/2003 - 11/2002
1autosomal recessive Segawa syndrome
01/2021
1Drug Resistant Epilepsy
01/2021
1Treatment-Resistant Depressive Disorder
01/2017
1Sepsis (Septicemia)
03/2015
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
08/2014
1Methylenetetrahydrofolate reductase deficiency
08/2014
1Ataxia (Dyssynergia)
08/2014
1Disease Progression
04/2014
1Dystonia (Limb Dystonia)
04/2014
1Cerebral Palsy (Spastic Diplegia)
04/2014
1Parkinsonian Disorders (Parkinsonism)
04/2014
1Sudden Infant Death (SID)
02/2014
1Microcephaly
01/2013
1Motor Disorders
04/2012
1Angelman Syndrome (Syndrome, Angelman)
01/2012
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2012
1Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
01/2012
1Mood Disorders (Mood Disorder)
11/2011
1Myoclonus (Nocturnal Myoclonus)
11/2011
1Migraine Disorders (Migraine)
11/2011
1Spastic Paraparesis
11/2011
1Migraine with Aura (Familial Hemiplegic Migraine)
11/2011
1Vitamin B 6 Deficiency (Pyridoxine Deficiency)
07/2010
1Metabolic Diseases (Metabolic Disease)
11/2009

Drug/Important Bio-Agent (IBA)

8Oxidoreductases (Dehydrogenase)IBA
02/2015 - 06/2008
6Serotonin (5 Hydroxytryptamine)IBA
12/2021 - 10/2006
6Dopamine (Intropin)FDA LinkGeneric
12/2021 - 01/2007
6Neurotransmitter Agents (Neurotransmitter)IBA
10/2021 - 01/2007
6Biomarkers (Surrogate Marker)IBA
01/2021 - 12/2004
6sapropterin (tetrahydrobiopterin)FDA Link
01/2019 - 08/2005
6Levodopa (L Dopa)FDA LinkGeneric
01/2013 - 03/2004
5Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2019 - 05/2009
5Leucovorin (Folinic Acid)FDA Link
08/2014 - 12/2002
4PyridoxalIBA
01/2015 - 06/2008
3Aromatic-L-Amino-Acid DecarboxylasesIBA
12/2021 - 07/2010
3Folic Acid (Vitamin M)FDA LinkGeneric
01/2016 - 07/2008
3EnzymesIBA
11/2014 - 08/2005
3AcidsIBA
11/2014 - 10/2006
3GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
05/2008 - 11/2002
2PterinsIBA
10/2021 - 03/2015
2NeopterinIBA
10/2021 - 12/2004
2Lysine (L-Lysine)FDA Link
01/2021 - 11/2014
2Phenylalanine (L-Phenylalanine)FDA Link
03/2015 - 11/2009
2BiopterinsIBA
03/2015 - 03/2015
2Nitric Oxide (Nitrogen Monoxide)FDA Link
03/2015 - 08/2005
27,8-dihydrobiopterinIBA
03/2015 - 03/2015
2Phosphates (Orthophosphate)IBA
02/2015 - 01/2013
2Dihydropteridine Reductase (6,7 Dihydropteridine Reductase)IBA
02/2015 - 01/2013
2Guanosine Triphosphate (GTP)IBA
02/2015 - 01/2003
2Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)IBA
02/2015 - 01/2007
2Dihydroxyphenylalanine (Dopa)IBA
01/2012 - 12/2006
1beta 2-Glycoprotein I (Apolipoprotein H)IBA
01/2021
1Vitamin B 6IBA
01/2021
1Apolipoproteins D (Apo D)IBA
01/2021
1Oligodendrocyte-Myelin GlycoproteinIBA
01/2021
1Dopa DecarboxylaseIBA
01/2020
1sepiapterinIBA
01/2019
15-methyltetrahydrofolateIBA
01/2016
1CreatinineIBA
03/2015
1Intercellular Adhesion Molecule-1 (Intercellular Adhesion Molecule 1)IBA
03/2015
1PyridoxamineIBA
02/2015
1tetrahydropterinIBA
02/2015
1Arginine (L-Arginine)FDA Link
11/2014
15,10-methylenetetrahydrofolic acidIBA
08/2014
1Betaine (C.B.B.)FDA Link
08/2014
1HomocysteineIBA
08/2014
1Methionine (L-Methionine)FDA Link
08/2014
1Dopamine Plasma Membrane Transport Proteins (Dopamine Transporter)IBA
04/2014
1Hydroxyindoleacetic AcidIBA
02/2014
1Homovanillic AcidIBA
02/2014
1Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
03/2013
1pyridoxamine phosphateIBA
03/2013
1pyridoxine 5-phosphateIBA
01/2013
1Carbidopa (Lodosyn)FDA LinkGeneric
01/2013
15-Hydroxytryptophan (5 Hydroxytryptophan)IBA
01/2013
1Monoamine Oxidase (MAO)IBA
05/2012
1Serotonin Plasma Membrane Transport Proteins (Serotonin Transporter)IBA
11/2011
1Proteins (Proteins, Gene)FDA Link
07/2010
1VitaminsIBA
06/2009

Therapy/Procedure

5Therapeutics
03/2015 - 11/2002
1Precision Medicine
05/2012