Employment
-
University College London
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (372)
- Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy Save
- Case report: The first report of a family with sitosterolemia in the Polish population Save
- Effectiveness of Pyridoxal‐5′‐Phosphate in PNPO Deficiency: A Systematic Review Save
- Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis Save
- Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency Save
- Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases Save
- Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2 Save
- Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C Save
- SH-SY5Y cells undergo changes in peroxisomal metabolism when exposed to decanoic acid Save
- Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature Save