D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Autor: Warsha A. Kanhai, Justin van Oostendorp, Silvy J. M. van Dooren, Martijn Kranendijk, Erwin E. W. Jansen, Eduard A. Struys, K. Michael Gibson, Matilde R. Fernandez, Senay Ozturk, Pascal Lennertz, Marjo S. van der Knaap, Emile Van Schaftingen, Gajja S. Salomons, Ana Pop

Publikováno v: Human mutation, (2019)
Human mutation, 40(7), 975-982. Wiley-Liss Inc.
Human Mutation, 40(7), 975-982. Wiley-Liss Inc.
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Pop, A, Struys, E A, Jansen, E E W, Fernandez, M R, Kanhai, W A, van Dooren, S J M, Ozturk, S, van Oostendorp, J, Lennertz, P, Kranendijk, M, van der Knaap, M S, Gibson, K M, van Schaftingen, E & Salomons, G S 2019, ' D-2-hydroxyglutaric aciduria Type I : Functional analysis of D2HGDH missense variants ', Human Mutation, vol. 40, no. 7, pp. 975-982 . https://doi.org/10.1002/humu.23751
Human mutation, Vol. 40, no. 7, p. 975-982 (2019)
Human Mutation

D-2-hydroxyglutaric aciduria Type I (D-2-HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH gene encoding D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). We and others detected 42 poten

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https://hdl.handle.net/2078.1/216799