Quantitative longitudinal natural history of eight gangliosidoses - conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.
Markus Ries, Grecia Mendoza, Laila Arash‐Kaps, Yasmina Amraoui, Folker Quack, Brigitte Hardt, Stefan Diederich, Michael Beck, Karl Eugen Mengel
This paper presents baseline data from a registry of eight gangliosidoses, quantifying disease severity and highlighting diagnostic delays and phenotypic characteristics.
Genetics in Medicine · Oct 3, 2022Peer-reviewedGenetic & Genomic Medicine