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Philippa B Mills Selected Research

Pyridoxal

10/2015Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
5/2014Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
7/2010Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
4/2005Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

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Philippa B Mills Research Topics

Disease

6Seizures (Seizure)
05/2014 - 04/2005
3Dystonia (Limb Dystonia)
05/2013 - 03/2012
3Epilepsy (Aura)
01/2013 - 04/2005
2Liver Diseases (Liver Disease)
09/2014 - 05/2012
2Liver Cirrhosis (Hepatic Cirrhosis)
09/2012 - 03/2012
2Polycythemia (Erythrocytosis)
09/2012 - 03/2012
1Primary Hyperoxaluria (Oxaluria, Primary)
10/2015
1Hereditary Spastic Paraplegia
09/2014
1Infantile Spasms (West Syndrome)
05/2014
1Hyperbilirubinemia
09/2012
1Movement Disorders (Movement Disorder)
03/2012
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
04/2011
1Hepatolenticular Degeneration (Wilson's Disease)
04/2008
1Cutis Laxa
06/2005
1Nervous System Diseases (Neurological Disorders)
04/2005
1Congenital Disorders of Glycosylation
02/2003

Drug/Important Bio-Agent (IBA)

7Pyridoxine (Pyridoxin)FDA LinkGeneric
10/2015 - 04/2005
5OxidoreductasesIBA
05/2014 - 04/2005
4PyridoxalIBA
10/2015 - 04/2005
4ManganeseIBA
05/2013 - 04/2008
3Anticonvulsants (Antiepileptic Drugs)IBA
04/2011 - 10/2007
2Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA
10/2015 - 04/2005
2Vitamin B 6IBA
10/2015 - 01/2013
2Pyridoxine-dependent epilepsyIBA
07/2010 - 07/2010
2allysineIBA
10/2007 - 03/2006
1PyridoxamineIBA
10/2015
1EnzymesIBA
10/2015
1Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA
10/2015
1Ursodeoxycholic Acid (Urso)FDA LinkGeneric
09/2014
1Chenodeoxycholic Acid (Chenix)FDA Link
09/2014
1L 30 (L-30)IBA
04/2011
1pyridoxine 5-phosphateIBA
07/2010
1Carbon MonoxideIBA
07/2010
1DNA (Deoxyribonucleic Acid)IBA
07/2010
1CopperIBA
04/2008
1PolysaccharidesIBA
06/2005
1Proteins (Proteins, Gene)IBA
06/2005
1Neurotransmitter Agents (Neurotransmitter)IBA
04/2005
1alpha 1-Antitrypsin (alpha 1 Antitrypsin)IBA
02/2003

Therapy/Procedure

1Parenteral Nutrition
05/2012