Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Autor: DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy, KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

Abstract Background Hypoglycaemia is the primary manifestation of all the hepatic types of glycogen storage disease (GSD). In 2008, Glycosade®, an extended-release waxy maize cornstarch, was reported as an alternative to uncooked cornstarch (UCCS) w

Externí odkaz: https://doaj.org/article/2e949200cd654652a3f605b25a80ce78

New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.

Autor: Ryder B; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Glamuzina E; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Halligan R; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK.; Department of Metabolic Medicine, Evelina Children's Hospital, London, UK., Vara R; Department of Metabolic Medicine, Evelina Children's Hospital, London, UK., Elliot A; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia., Coman D; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia.; School of Medicine University of Queensland and Griffith University, Brisbane, Queensland, Australia., Minto T; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia., Lewis K; Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, Brisbane, QLD, Australia., Schiff M; Reference Centre for Inherited Metabolic Diseases, AP-HP, Necker University Hospital, University of Paris, Paris, France.; INSERM U1163, Institut Imagine, Paris, France., Vijay S; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK., Akroyd R; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Thompson S; Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia.; Faculty of Health and Medical Science, University of Sydney, Sydney, New South Wales, Australia., MacDonald A; Department of Inherited Metabolic Disorders, Birmingham Women's and Children's Hospital Foundation Trust, Birmingham, UK., Woodward AJM; Department of Nutrition & Dietetics, Evelina London Children's Hospital, London, UK., Gribben JEL; Department of Nutrition & Dietetics, Evelina London Children's Hospital, London, UK., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Centre, London, UK., Belaramani K; Department of Metabolic Medicine, Hong Kong Children's Hospital, Ngau Tau Kok, Hong Kong., Hall M; Departments of Metabolic Medicine & Nutrition, Women's and Children's Hospital, North Adelaide, South Australia, Australia., van der Haak N; Departments of Metabolic Medicine & Nutrition, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Devanapalli B; Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia., Tolun AA; Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia., Wilson C; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., Bhattacharya K; Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia.; Faculty of Health and Medical Science, University of Sydney, Sydney, New South Wales, Australia.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 903-915. Date of Electronic Publication: 2021 Mar 29.