Result: Parental whole-exome sequencing enables Sialidosis type II diagnosis due to an NEU1 missense mutation as an underlying cause of Nephrotic syndrome in the child

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2023

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Kidney international. - 3, 6 (2018) , 1454-1463, ISSN: 2468-0249

*DOI*:

10.1016/j.ekir.2018.07.015

*Result*: Parental whole-exome sequencing enables Sialidosis type II diagnosis due to an NEU1 missense mutation as an underlying cause of Nephrotic syndrome in the child