Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y)

Autor: Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

Publikováno v: Fuchs, S A, Schene, I F, Kok, G, Jansen, J M, Nikkels, P G J, van Gassen, K L I, Terheggen-Lagro, S W J, van der Crabben, S N, Hoeks, S E, Niers, L E M, Wolf, N I, de Vries, M C, Koolen, D A, Houwen, R H J, Mulder, M F & van Hasselt, P M 2020, ' Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes (Genetics in Medicine, (2019), 21, 2, (319-330), 10.1038/s41436-018-0048-y) ', Genetics in Medicine . https://doi.org/10.1038/s41436-020-00966-1

The reported QARS deficient patient carries the QARS1 mutation (NM_005051.2) c.793C>T p.(Arg265Cys and not Arg25Cys). In addition, in Fig. 5, the reported p.Lys476* in QARS1 should have been p.Lys496* (Kodera H, Osaka H, Iai M, et al. Mutations in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10172::9a5454755d429eb0f44151118a6daae7
https://research.vumc.nl/en/publications/d07cbdad-b754-4eb7-b054-5036bb0a142d

Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes

Autor: Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke

Publikováno v: Journal of Inherited Metabolic Disease, 42(3), 414-423. SPRINGER

BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6bdfd61fbc425e15097578ce6d5efad9
https://research.rug.nl/en/publications/3e3710a1-135d-40d0-9acb-9bc1b434a96e

Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Autor: Kok, G, Schene, IF, Nikkels, PGJ, van Gassen, KLI, Terheggen-Lagro, Suzanne W.J., van der Crabben, SN, Hoeks, Sanne B. E. A., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, RHJ, Mulder, Margot F., van Hasselt, PM, Fuchs, SA

24. MISCELLANEOUS / NEW DISEASE GROUP : Oral / Poster

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10691::12be26d4c062625038d032405bfa8129
https://dspace.library.uu.nl/handle/1874/375710

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