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2021
van Outersterp, Rianne E., Engelke, Udo F. H., Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Mecinovic, Jasmin 
ORCID: 0000-0002-5559-3822, Rutjes, Floris P. J. T., van Karnebeek, Clara D. M., Wevers, Ron A., Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan and Oomens, Jos ORCID: 0000-0002-2717-1278
(2021).
Metabolite Identification Using Infrared Ion Spectroscopy-Novel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal. Chem., 93 (46).
S. 15340 - 15349.
WASHINGTON:
AMER CHEMICAL SOC.
ISSN 1520-6882
2018
Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja ORCID: 0000-0002-4472-8584, Holm, Rikke, Baumann, Matthias, Koenig, Jens, Lee, Jessica J. Y., Drogemoller, Britt ORCID: 0000-0002-3348-5855, Imminger, Katrin, Beck, Bodo B., Altmueller, Janine, Thiele, Holger, Waldegger, Siegfried, van't Hoff, William, Kleta, Robert, Warth, Richard ORCID: 0000-0001-6084-0659, van Karnebeek, Clara D. M., Vilsen, Bente ORCID: 0000-0002-4727-9382, Bockenhauer, Detlef ORCID: 0000-0001-5878-941X and Konrad, Martin
(2018).
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Am. J. Hum. Genet., 103 (5).
S. 808 - 817.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605