Associated Papers
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients.
Ammer LS et al.
Journal of Clinical Medicine, 2023
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Di Lorenzo G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34341521 (PubMed )
Supplement: 41436_2021_1285_MOESM1_ESM.pdf
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Velho RV et al.
Human Mutation, 2019
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
Kollmann K et al.
Embo Molecular Medicine, 2013
Select a paper to view details