Article

Quantitative longitudinal natural history of eight gangliosidoses – conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

2022-04-14

Abstract excerpt

<h4>Purpose</h4> Gangliosidoses are a group of inherited neurogenetic autosomal recessive lysosomal storage disorders usually presenting with progressive macrocephaly, developmental delay and regression, leading to significant morbidity, and premature death. A quantitative definition of the natural history would support and enable clinical development of specific therapies. <h4>Methods</h4> Single disease regist...

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Literature Corpus work: 3a7d2bbe-a936-5553-bda9-6a00b9753bde
DOI: 10.1101/2022.04.13.22273562

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