 | Up a level |
2020
Rabenstein, M., Weis, J., Abicht, A., Fink, G. R., Lehmann, H. C. and Wunderlich, G. (2020). Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type 2: difficult diagnosis, easy to treat. Nervenarzt, 91 (4). S. 349 - 353. NEW YORK: SPRINGER. ISSN 1433-0407
Velmans, C., O'Donnell-Luria, A., Argilli, E., Tran-Mau-Them, F., Vitobello, A., Rech, M., Abicht, A., Aubert-Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., de Dios, K., Funalot, B., Joseph, M., Kenendy, C., van de Laar, I., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L., Paterson, H., Ramanathan, S., Sherr, E., Netzer, C., Schaaf, C. and Erger, F. (2020). Refining the phenotypic & mutational spectrum in a multinational cohort of O'Donnell-Luria-Rodan Syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 347 - 349. LONDON: SPRINGERNATURE. ISSN 1476-5438
2019
Wunderlich, G., Abicht, A., Brunn, A., Daimagueler, H. -S., Schroeter, M., Fink, G. R., Lehmann, H. C. and Cirak, S. (2019). Congenitalmyasthenic syndromes in adulthood. Challenging, rare but treatable. Nervenarzt, 90 (2). S. 148 - 160. NEW YORK: SPRINGER. ISSN 1433-0407