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Journal of Inherited Metabolic Disease|January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolismMatthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
International Review of Neurobiology|November 12, 2013
Manganese and the brainKarin Tuschl, Philippa B Mills, Peter T Clayton
Neurology|July 31, 2015
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombinationHeather C Mefford, Matthew Zemel, Eileen Geraghty, et al.
The Journal of Pharmacy and Pharmacology|February 22, 2017
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsyAbeer H A Mohamed-Ahmed, Matthew P Wilson, Maedelyn Albuera, et al.
Nature Medicine|February 24, 2006
Mutations in antiquitin in individuals with pyridoxine-dependent seizuresPhilippa B Mills, Eduard Struys, Cornelis Jakobs, et al.
Journal of Inherited Metabolic Disease|July 22, 2024
Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiencyYoussef Khalil, Emma Footitt, Reddy Vootukuri, et al.
Glycobiology|March 11, 2003
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not randomKevin Mills, Philippa B Mills, Peter T Clayton, et al.
Developmental Medicine and Child Neurology|April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyBernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.
Journal of Inherited Metabolic Disease|May 12, 2012
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS methodEmma J Footitt, Peter T Clayton, Kevin Mills, et al.
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