Items where Author is "Stepien, KM"

Article

Puente-Ruiz, N, Palaniappan, S, Woodall, A, Cooper, R ORCID: 0000-0001-7482-828X, Terry, A, Oldham, A, Rousseau, A, Campbell, C, Vasudevan, P and Stepien, KM ORCID: 0000-0003-0148-6332 (2025) The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant. Jimd Reports, 66 (4). ISSN 2192-8304

Dewsbury, MR, Hargreaves, IP ORCID: 0000-0002-2760-5603, Morgan, HM and Stepien, KM ORCID: 0000-0003-0148-6332 (2024) Molecular basis of neurocognitive dysfunction and psychosis in Alpha-Mannosidosis. Journal of Translational Genetics and Genomics, 8 (2). pp. 85-101.

Stepien, KM ORCID: 0000-0003-0148-6332, Cufflin, N, Donald, A, Jones, S ORCID: 0000-0002-5117-0566, Church, H and Hargreaves, IP ORCID: 0000-0002-2760-5603 (2022) Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies. International Journal of Molecular Sciences, 23 (18). p. 10573. ISSN 1661-6596

Stepien, KM, Roncaroli, F, Turton, N, Hendriksz, CJ, Roberts, M, Heaton, R and Hargreaves, IP (2020) Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review. Journal of Clinical Medicine, 9 (8). ISSN 2077-0383

Stepien, KM, Heaton, R, Rankin, S, Murphy, A, Bentley, J, Sexton, DW and Hargreaves, IP (2017) Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders. Journal of Clinical Medicine, 6 (7). ISSN 2077-0383