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Akademický článek

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Autor: Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz

Publikováno v: Cell Reports, Vol 43, Iss 3, Pp 113883- (2024)

Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation. While the disorder presents with primarily neur

Externí odkaz: https://doaj.org/article/024f4555f92c4b3d86ca5b20b595064b

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Akademický článek

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Autor: C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-22 (2022)

Abstract Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences. There

Externí odkaz: https://doaj.org/article/662c00e6488b472eada75a244a3f2073

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