Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
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…·Karl Eugen Mengel
This paper presents baseline data from a registry of eight gangliosidoses, quantifying disease severity and highlighting diagnostic delays and phenotypic characteristics.
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