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Novel Loss of Function Variant in BCKDK Causes a Treatable ..:
François Boemer
;
Claire Josse
;
Géraldine Luis
...
https://www.mdpi.com/1422-0067/23/4/2253. , 2022
Link:
https://doi.org/10.3390/ijms23042253
RT Journal T1
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:31a9bf404eb54c159a3aaac7eda598db&Exemplar=1&LAN=DE A1 François Boemer A1 Claire Josse A1 Géraldine Luis A1 Emmanuel Di Valentin A1 Jérôme Thiry A1 Christophe Cello A1 Jean-Hubert Caberg A1 Caroline Dadoumont A1 Julie Harvengt A1 Aimé Lumaka A1 Vincent Bours A1 François-Guillaume Debray PB MDPI AG YR 2022 K1 BCKDK deficiency K1 branched-chain amino acids K1 autism K1 epilepsy K1 newborn screening K1 Biology (General) K1 QH301-705.5 K1 Chemistry K1 QD1-999 JF https://www.mdpi.com/1422-0067/23/4/2253 LK http://dx.doi.org/https://doi.org/10.3390/ijms23042253 DO https://doi.org/10.3390/ijms23042253 SF ELIB - SuUB Bremen
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