Publications by Dr Sabrina Mackinnon - ePrints

Newcastle Authors	Title	Year
Dr Sabrina Mackinnon	Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.	2021
Dr Sabrina Mackinnon	Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease	2021
Dr Sabrina Mackinnon	Naturally occurring cobalamin (B₁₂) analogs can function as cofactors for human methylmalonyl-CoA mutase	2020
Dr Sabrina Mackinnon	Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.	2019
Dr Sabrina Mackinnon	Substrate reduction therapy for inborn errors of metabolism.	2019
Dr Sabrina Mackinnon	Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia	2018
Dr Sabrina Mackinnon Dr Thomas McCorvie	Human Galactose-1-phosphate Uridylyltransferase (GALT), Galactokinase 1 (GALK1); A Target Enabling Package	2018
Dr Sabrina Mackinnon	Human Hydroxyacid Oxidase (HAO1); A Target Enabling Package	2018
Dr Sabrina Mackinnon Dr Paul Brennan	Human alpha-aminoadipic semialdehyde synthase (AASS); A Target Enabling Package.	2017
Dr Sabrina Mackinnon	IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I	2017