6 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 31669185 | Neurofilament-lysosomal genetic intersections in the cortical network of stuttering. | 2020 Jan | 1 |
2 | 32220096 | Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention. | 2020 Jul | 1 |
3 | 33000604 | Dilated cardiomyopathy in mucolipidosis type 2. | 2020 Jul-Aug | 1 |
4 | 30882951 | The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. | 2019 Jul | 1 |
5 | 26935170 | Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations. | 2016 Jun | 1 |
6 | 18425436 | Molecular analysis of the GlcNac-1-phosphotransferase. | 2008 Apr | 1 |