Sabrina MacKinnon

Expanding the genotypic spectrum of Perrault syndrome

Leigh Demain, Jill Urquhart, James O’Sullivan et al. · Clinical Genetics · 2016 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Substrate reduction therapy for inborn errors of metabolism

Wyatt W. Yue, Sabrina MacKinnon, G.A. Bezerra · Emerging Topics in Life Sciences · 2019 · 29 citations · Full text

Life Sciences, Genetics, Pharmacology +16

<i>IDUA</i> mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

Arunabha Ghosh, Jean Mercer, Sabrina MacKinnon et al. · Human Mutation · 2017 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase

Olga M. Sokolovskaya, Tanja Plessl, H. Bailey et al. · Biochimie · 2020 · 21 citations · Full text

Life Sciences, Biochemistry, Metabolism +11

Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia

Sabrina MacKinnon, T. Krojer, William R. Foster et al. · ACS Chemical Biology · 2021 · 15 citations · Full text

Life Sciences, Biochemistry, Medicinal Chemistry +17