Philippa B. Mills

30 Guilford Street, WC1N 1EH
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 73 publications

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

Journal: JIMD reports
Published: January 22, 2026

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Acquired vitamin B6 deficiency in POEMS: a marker of disease activity and cause of neuropathy?

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: December 21, 2025

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1.

Journal: Neurology. Genetics
Published: June 04, 2025

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.

Liver Transplantation in PNPO Deficiency: Management Challenges and Biological Lessons.

Journal: JIMD reports
Published: May 20, 2025

Safety and efficacy analysis of in vivo lentiviral gene therapy in pre-clinical ARC syndrome models.

Safety and efficacy analysis of in vivo lentiviral gene therapy in pre-clinical ARC syndrome models.

Journal: Nature communications
Published: May 15, 2025

RNA-Based Therapies for Inherited Metabolic Disorders.

RNA-Based Therapies for Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease
Published: March 16, 2025

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study.

Journal: Molecular genetics and metabolism
Published: January 29, 2025

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Journal: Neurology. Genetics
Published: May 02, 2024

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency.

Journal: Journal of inherited metabolic disease
Published: March 20, 2024

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Journal: Antioxidants (Basel, Switzerland)
Published: January 11, 2024

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

Journal: Science translational medicine
Published: January 10, 2024

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.

Journal: Molecular genetics and metabolism reports
Published: November 01, 2023
Showing 1-12 of 73

Last Updated: 09/26/2026