Showing results (11-20 of 18) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Human Molecular Genetics|March 9, 2022
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane traffickingMatthew P Wilson, Zoé Durin, Özlem Unal, et al.Journal of Inherited Metabolic Disease|August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiencyFrancisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.Cell|April 22, 2017
Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegansTimothy A Scott, Leonor M Quintaneiro, Povilas Norvaisas, et al.Analytical Chemistry|August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with EpilepsyMatthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.Journal of Inherited Metabolic Disease|October 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, et al.Cell|May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.Annals of Neurology|June 13, 2019
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementationViorica Chelban, Matthew P Wilson, Jodi Warman Chardon, et al.Pageof 2