Lynette D. Fairbanks
Guys & St Thomas' NHS Foundation Trust
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 35 publications
Early postnatal hepatocyte transplantation in a child with molybdenum cofactor deficiency type B.
Journal: Molecular genetics and metabolism
Published: January 14, 2025
cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.
Journal: Molecular genetics and metabolism
Published: August 20, 2024
Partial Purine Nucleoside Phosphorylase Deficiency: an Unexpected Diagnosis in an Adult Patient.
Journal: Journal of clinical immunology
Published: November 26, 2023
Kidney Failure Secondary to Hereditary Xanthinuria due to a Homozygous Deletion of the XDH Gene in the Absence of Overt Kidney Stone Disease.
Journal: Nephron
Published: September 27, 2022
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Journal: American journal of medical genetics. Part A
Published: June 06, 2022
Treating gout - can hypouricemia produced by moderate doses of combined oral treatment give early treatment success? Preliminary observations.
Journal: Nucleosides, nucleotides & nucleic acids
Published: March 08, 2022
Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.
Journal: Scientific reports
Published: September 27, 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Journal: Molecular genetics and metabolism reports
Published: October 02, 2020
Refractory gout - does it exist?
Journal: Nucleosides, nucleotides & nucleic acids
Published: May 01, 2020
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.
Journal: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
Published: February 20, 2020
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.
Journal: Journal of clinical medicine
Published: February 12, 2020
Last Updated: 09/26/2026