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List of works by Matthew Wilson

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

scientific article published on 14 October 2021

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

scientific article published on 7 August 2017

Disorders affecting vitamin B metabolism

scientific article published on 20 March 2019

Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans

scientific article

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

scientific article published on December 2016

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

scientific article published on 01 July 2019

Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy

scientific article published on 21 February 2017

SLC37A4-CDG: Second patient

scientific article published on 06 January 2021

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