Disease: Infantile sialic acid storage disorder
- A unique erythropoietin dosage induces the recovery of long-term synaptic potentiation in fimbria-fornix lesioned rats
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
- Base editing corrects the common Salla disease <em>SLC17A5</em> c.115C>T variant
- Base editing corrects the common Salla disease SLC17A5 c.115C>T variant
- Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase
- Free sialic acid storage disorder: Progress and promise
- Free sialic acid storage disorders with fetal hydrops in a neonate
- Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis
- Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations
- Inherited disorders of lysosomal membrane transporters
- Juvenile sialidosis: a rare case and review of the literature
- Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
- Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review
- Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs)
- Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the <em>SLC17A5</em> gene
- Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene
- Psychiatric symptoms in Salla disease
- Teaching NeuroImage: A New Imaging Finding in a Boy With Salla Disease Caused by a Pathogenic Variant in the <em>SLC17A5</em> Gene
- Teaching NeuroImage: A New Imaging Finding in a Boy With Salla Disease Caused by a Pathogenic Variant in the SLC17A5 Gene
- The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C
- The molecular mechanism of sialic acid transport mediated by Sialin
- Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1
- Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII