Philippa B Mills Selected Research

Enzymes

1/2017	An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
1/2016	TRNT1 deficiency: clinical, biochemical and molecular genetic features.
10/2015	Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
5/2014	Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
7/2010	Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

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Philippa B Mills Research Topics

Disease

9	Epilepsy (Aura) 12/2023 - 04/2005
8	Seizures (Absence Seizure) 01/2019 - 04/2005
7	Pyridoxine-dependent epilepsy 12/2016 - 03/2006
4	Argininosuccinic Aciduria 01/2024 - 01/2017
4	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2017 - 01/2013
3	Liver Diseases (Liver Disease) 01/2024 - 05/2012
3	Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 01/2016 - 03/2012
3	Dystonia (Limb Dystonia) 01/2016 - 09/2012
3	Brain Diseases (Brain Disorder) 01/2015 - 04/2005
2	Movement Disorders (Movement Disorder) 12/2023 - 03/2012
2	Hyperammonemia 01/2021 - 01/2017
2	Polyneuropathies (Polyneuropathy) 01/2020 - 01/2019
2	Optic Atrophy 01/2020 - 01/2019
2	Molybdenum cofactor deficiency 11/2012 - 04/2011
2	Hepatolenticular Degeneration (Wilson's Disease) 09/2012 - 04/2008
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2022
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2021
1	Inborn Urea Cycle Disorders 01/2021
1	Hypophosphatasia 01/2019
1	Infarction (Infarctions) 01/2017
1	Intellectual Disability (Idiocy) 01/2017
1	Failure to Thrive 01/2017
1	Atrophy 01/2017
1	Neutropenia 01/2017
1	Megaloblastic Anemia 01/2017
1	Fever (Fevers) 01/2016
1	Metabolic Diseases (Metabolic Disease) 01/2016
1	Exocrine Pancreatic Insufficiency 01/2016
1	Channelopathies 01/2016
1	Vomiting 01/2016
1	Parkinsonian Disorders (Parkinsonism) 01/2016
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2016
1	Primary Hyperoxaluria (Oxaluria, Primary) 10/2015
1	Jaundice (Icterus) 09/2014
1	Hereditary Spastic Paraplegia 09/2014
1	Infantile Spasms (West Syndrome) 05/2014
1	Fibrosis (Cirrhosis) 09/2012
1	Hyperbilirubinemia 09/2012
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 04/2011

Drug/Important Bio-Agent (IBA)

9	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2019 - 04/2005
8	Oxidoreductases (Dehydrogenase)IBA 01/2019 - 04/2005
8	PyridoxalIBA 01/2019 - 04/2005
6	Vitamin B 6IBA 01/2020 - 01/2013
6	ManganeseIBA 01/2016 - 04/2008
5	EnzymesIBA 01/2017 - 07/2010
4	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 04/2017 - 04/2005
4	Anticonvulsants (Antiepileptic Drugs)IBA 01/2016 - 10/2007
3	allysineIBA 07/2010 - 03/2006
2	Argininosuccinate LyaseIBA 01/2021 - 01/2018
2	Proteins (Proteins, Gene)FDA Link 01/2021 - 06/2005
2	Carrier Proteins (Binding Protein)IBA 01/2019 - 12/2016
2	Neurotransmitter Agents (Neurotransmitter)IBA 01/2019 - 04/2005
2	AmmoniaIBA 01/2018 - 01/2017
2	DNA (Deoxyribonucleic Acid)IBA 07/2010 - 06/2005
1	Messenger RNA (mRNA)IBA 01/2024
1	4-(3-fluoropropyl)glutamic acidIBA 01/2024
1	Lipid NanoparticlesIBA 01/2024
1	Glutathione (Reduced Glutathione)IBA 01/2024
1	CatecholaminesIBA 12/2023
1	Biomarkers (Surrogate Marker)IBA 12/2022
1	Orotic AcidIBA 01/2021
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2021
1	Peptides (Polypeptides)IBA 01/2021
1	Beclin-1IBA 01/2021
1	NitrogenIBA 01/2021
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2019
1	Aminobutyrates (Aminobutyric Acid)IBA 01/2019
1	Phosphates (Orthophosphate)IBA 01/2019
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/2018
1	CitrullineIBA 01/2018
1	Urea (Carbamide)FDA LinkGeneric 01/2018
1	CreatineIBA 01/2017
1	Amino Acids FDA Link 01/2017
1	Oroticaciduria 1IBA 01/2017
1	UridineIBA 01/2017
1	pyrimidineIBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 12/2016
1	Ligases (Synthetase)IBA 12/2016
1	Proline (L-Proline)FDA Link 12/2016
1	Transfer RNA (tRNA)IBA 01/2016
1	TransferasesIBA 01/2016
1	ElectrolytesIBA 01/2016
1	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 10/2015
1	PyridoxamineIBA 10/2015
1	Ursodeoxycholic Acid (Urso)FDA LinkGeneric 09/2014
1	Mixed Function Oxygenases (Monooxygenases)IBA 09/2014
1	AlbuminsIBA 09/2014
1	Chenodeoxycholic Acid (Chenix)FDA Link 09/2014
1	OxysterolsIBA 09/2014
1	Sulfite OxidaseIBA 11/2012
1	MetalsIBA 09/2012
1	Bile Acids and Salts (Bile Acids)IBA 05/2012
1	SulfitesIBA 04/2011
1	L 30 (L-30)IBA 04/2011
1	NAD (NADH)IBA 07/2010
1	pyridoxine 5-phosphateIBA 07/2010

Therapy/Procedure

6	Therapeutics 01/2024 - 10/2015
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2016
1	Aftercare (After-Treatment) 01/2016
1	Parenteral Nutrition 05/2012