Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lenneke A T, van Kats"'
Autor:
Hubertus C.M.T. Prinsen, Peter M. van Hasselt, Gepke Visser, Monique G.M. de Sain-van der Velden, Astrid C. J. Balemans, Koen L.I. van Gassen, Willemijn F. E. Kuper, Marie-Anne Kuijper, Lenneke A. T. van Kats
Publikováno v:
JIMD Reports, 42, 99-103
de Sain-van der Velden, M G M, Kuper, W F E, Kuijper, M-A, van Kats, L A T, Prinsen, H C M T, Balemans, A C J, Visser, G, van Gassen, K L I & van Hasselt, P M 2018, Beneficial effect of BH4 treatment in a 15-year-old boy with biallelic mutations in DNAJC12 . in JIMD Reports . vol. 42, JIMD Reports, Springer, pp. 99-103 . https://doi.org/10.1007/8904_2017_86
JIMD Reports ISBN: 9783662583647
de Sain-van der Velden, M G M, Kuper, W F E, Kuijper, M-A, van Kats, L A T, Prinsen, H C M T, Balemans, A C J, Visser, G, van Gassen, K L I & van Hasselt, P M 2018, Beneficial effect of BH4 treatment in a 15-year-old boy with biallelic mutations in DNAJC12 . in JIMD Reports . vol. 42, JIMD Reports, Springer, pp. 99-103 . https://doi.org/10.1007/8904_2017_86
JIMD Reports ISBN: 9783662583647
Background: Biallelic mutations in DNAJC12 were recently identified as a BH4-responsive cause of hyperphenylalaninemia (HPA). Outcome was only favorable when treatment was initiated early in life. We report on a 15-year-old boy with HPA due to a homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be564e8351be409c0ea3aa07aad1088
https://research.vumc.nl/en/publications/8cf3ef22-5a49-4e39-853e-cd1354e30a0c
https://research.vumc.nl/en/publications/8cf3ef22-5a49-4e39-853e-cd1354e30a0c
Autor:
Monique G M, de Sain-van der Velden, Willemijn F E, Kuper, Marie-Anne, Kuijper, Lenneke A T, van Kats, Hubertus C M T, Prinsen, Astrid C J, Balemans, Gepke, Visser, Koen L I, van Gassen, Peter M, van Hasselt
Publikováno v:
JIMD reports. 42
Biallelic mutations in DNAJC12 were recently identified as a BHA boy with developmental delay, an extrapyramidal movement disorder, and persistently elevated plasma phenylalanine levels was diagnosed with DNAJC12 deficiency at the age of 15 years. Di