DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 02 · Volume 49 · October 2018 DOI: 10.1055/s-008-41768


Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics
Berlin, 30.10 – 03.11.2018

Chair: Prof. Dr. Volker Mall, Department of Pediatrics, University Hospital, Technical University Munich
Abstracts (HTML) List of Authors
FV697
Lenz, Dominic; Mcclean, Patricia; Kansu, Aydan; Bonnen, Penelope; Ranucci, Giusy; Thiel, Christian; Straub, Beate; Harting, Inga; Alhaddad, Bader; Dimitrov, Bianca; Kotzaeridou, Urania; Wenning, Daniel; Iorio, Raffaele; Himes, Ryan; Kuloğlu, Zarife; Blakely, Emma; Taylor, Robert; Meitinger, Thomas; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg Friedrich; Haack, Tobias; Staufner, Christian: FV 697. Biallelic Mutations in SCYL1 Cause CALFAN-Syndrome (Cholestasis, Acute Liver Failure, and Neurodegeneration), A Congenital Disorder of Intracellular Trafficking with a Variable Neurological Phenotype
FV735
Wille, David-Alexander; Haack, Tobias; Hackenberg, Annette; Plecko-Startinig, Barbara: FV 735. UBTF-Related Dementia and Parkinsonism—Case Report of a Novel Disease Entity
FV943
Laugwitz, Lucia; Grimmel, Mona; Buchert, Rebecca; Sturm, Marc; Beck-Wödl, Stefanie; Rieß, Olaf; Haack, Tobias: FV 943. Facilitating a Molecular Diagnosis as Soon as Possible: Diagnostic Exome in Neurometabolic Disorders