Free sialic acid storage disorder: Progress and promise

M Huizing, ME Hackbarth, DR Adams, M Wasserstein… - Neuroscience …, 2021 - Elsevier
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal
recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal …

miR-550a-5p promotes the proliferation and migration of hepatocellular carcinoma by targeting GNE via the Wnt/ß-catenin signaling pathway.

LI Chun-Ming, WU Wu, ZHU Zhu, LU Pei-Lin… - …, 2022 - search.ebscohost.com
Liver cancer is one of the most common tumors with a high malignant degree in the world. Its
diagnosis and treatment are very difficult and limited. More novel and powerful DAT …

[PDF][PDF] The Identification of Sialuria with Different Degrees of Intellectual Disabilities in Children and Adolescents

H Ishtiaq, S Siddiqui, R Nawaz, MA Hussain, F Imtiaz… - APP, 2021 - drive.google.com
Background: Single nucleotide polymorphism/mutation in the R263L region of the allosteric
site of the GNE gene produces a phenotype with an overproduction of intracellular levels of …