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Philippa B Mills

Showing results (11-20 of 48) with videos related to

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Journal of Inherited Metabolic Disease|March 10, 2012
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiencyPhilippa B Mills, Emma J Footitt, Serkan Ceyhan, et al.
Journal of Inherited Metabolic Disease|November 18, 2011
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolismCatherine P K Chong, Philippa B Mills, Patricia McClean, et al.
Developmental Medicine and Child Neurology|July 14, 2022
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disordersApostolos Papandreou, Ivan Doykov, Justyna Spiewak, 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.
Biochimica Et Biophysica Acta|June 16, 2005
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristicsSuzan Wopereis, Eva Morava, Stephanie Grünewald, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 24, 2002
Evaluation of transgenic tomato plants expressing an additional phytoene synthase in a fruit-specific mannerPaul D Fraser, Susanne Romer, Cathie A Shipton, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 20, 2026
Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?Oliver Tomkins, Simon Alexander Samuel Pope, Youssef Khalil, et al.
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.
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.
JIMD Reports|April 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine TherapyChloé de Puyraimond, Samia Pichard, Muriel Girard, et al.
Pageof 5

Showing results (11-20 of 48) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|March 10, 2012
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiencyPhilippa B Mills, Emma J Footitt, Serkan Ceyhan, et al.
Journal of Inherited Metabolic Disease|November 18, 2011
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolismCatherine P K Chong, Philippa B Mills, Patricia McClean, et al.
Developmental Medicine and Child Neurology|July 14, 2022
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disordersApostolos Papandreou, Ivan Doykov, Justyna Spiewak, 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.
Biochimica Et Biophysica Acta|June 16, 2005
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristicsSuzan Wopereis, Eva Morava, Stephanie Grünewald, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 24, 2002
Evaluation of transgenic tomato plants expressing an additional phytoene synthase in a fruit-specific mannerPaul D Fraser, Susanne Romer, Cathie A Shipton, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|May 20, 2026
Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?Oliver Tomkins, Simon Alexander Samuel Pope, Youssef Khalil, et al.
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.
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.
JIMD Reports|April 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine TherapyChloé de Puyraimond, Samia Pichard, Muriel Girard, et al.
Pageof 5