• <em>Cannabis sativa</em> as a Treatment for Obesity: From Anti-Inflammatory Indirect Support to a Promising Metabolic Re-Establishment Target
• A 13-year follow-up of Finnish patients with Salla disease
• A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome
• A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination
• A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder
• A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease
• A unique erythropoietin dosage induces the recovery of long-term synaptic potentiation in fimbria-fornix lesioned rats
• Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin
• Analysis of human brain tissue derived from DBS surgery
• Analysis of O-Acetylated Sialic Acids in Dried Blood Spots
• 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&gt;T variant
• Base editing corrects the common Salla disease SLC17A5 c.115C>T variant
• Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis
• CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
• Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders
• Coordination as a best practice from the polio eradication initiative: Experiences from five member states in the African region of the World Health Organization
• Cronobacter Species Contamination of Powdered Infant Formula and the Implications for Neonatal Health
• CSMD1 regulates brain complement activity and circuit development
• Decreased Gray-White Matter Contrast of [11C]-PiB Uptake in Cognitively Unimpaired Subjects with Severe Obstructive Sleep Apnea
• Defense responses in plants of Eucalyptus elicited by Streptomyces and challenged with Botrytis cinerea
• Differential liver histopathological responses to amphibian chytrid infection
• Effects of Ethanolic Extract of Cynara cardunculus (Artichoke) Leaves on Neuroinflammatory and Neurochemical Parameters in a Diet-Induced Mice Obesity Model
• Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase
• Enzymatic properties of β-N-acetylglucosaminidases
• Epidemiological and Surveillance Response to Ebola Virus Disease Outbreak in Lofa County, Liberia (March-September, 2014); Lessons Learned
• Epidemiological, clinical, and genetic characteristics of paediatric genetic white matter disorders in Northern Finland
• Epidemiology of lysosomal storage diseases in Sweden
• Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
• Exploration of the Sialic Acid World
• Extraction and immobilization of SA-α-2,6-Gal receptors on magnetic nanoparticles to study receptor stability and interaction with Sambucus nigra lectin
• Eye Banks: Future Perspectives
• Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases
• First Patient With Salla Disease Confirmed by Genomic Analysis in Japan
• 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
• Ganglioside Metabolism in Health and Disease
• Gastric mucosal pathology in Belgian Shepherd dogs with and without clinical signs of gastric disease
• Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations
• GM1-gangliosidosis in American black bears: clinical, pathological, biochemical and molecular genetic characterization
• Highly pathogenic avian influenza A/H5N1 Clade 2.3.2.1c virus in poultry in Cameroon, 2016-2017
• Human myelin proteolipid protein structure and lipid bilayer stacking
• Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene
• Identification and Characterization of Novel Receptor-Interacting Serine/Threonine-Protein Kinase 2 Inhibitors Using Structural Similarity Analysis
• Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
• Identification, Synthesis, and Biological Evaluation of the Major Human Metabolite of NLRP3 Inflammasome Inhibitor MCC950
• Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria
• Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation
• Inherited disorders of lysosomal membrane transporters
• Instrument to Enhance Visualization of Descemet Membrane During Graft Preparation for DMEK Surgery
• Juvenile sialidosis: a rare case and review of the literature
• Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
• Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
• Lysosomal Glycosphingolipid Storage Diseases
• Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
• Lysosomal storage diseases
• Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review
• Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center
• Molecular evidence of sustained urban malaria transmission in Amazonian Brazil, 2014-2015
• Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in <em>NEU1</em> gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings
• Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease
• Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides
• Neuronal Ganglioside and Glycosphingolipid (GSL) Metabolism and Disease : Cascades of Secondary Metabolic Errors Can Generate Complex Pathologies (in LSDs)
• New observation of sialuria prompts detection of liver tumor in previously reported patient
• Novel Biomarkers for Inflammatory Bowel Disease and Colorectal Cancer: An Interplay between Metabolic Dysregulation and Excessive Inflammation
• Novel findings on the impact of chytridiomycosis on the cardiac function of anurans: sensitive vs. tolerant species
• Polio eradication in the African Region on course despite public health emergencies
• Polio eradication in the World Health Organization African Region, 2008-2012
• Polio Eradication Initiative (PEI) contribution in strengthening public health laboratories systems in the African region
• Polio Eradication Initiative: Contribution to improved communicable diseases surveillance in WHO African region
• 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
• Prenatal hydrops foetalis associated with infantile free sialic acid storage disease
• Preoperative Diagnosis of Abdominal Extra-Adrenal Paragangliomas with Fine-Needle Biopsy
• Progress toward laboratory containment of poliovirus after polio eradication
• Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice
• Psychiatric symptoms in Salla disease
• Resveratrol and Resveratrol-Aspirin Hybrid Compounds as Potent Intestinal Anti-Inflammatory and Anti-Tumor Drugs
• SARS-CoV-2: Impact on, Risk Assessment and Countermeasures in German Eye Banks
• Selective exo-enzymatic labeling of N-glycans on the surface of living cells by recombinant ST6Gal I
• Seroprevalence of Antibodies against Measles, Rubella and Varicella among Asylum Seekers Arriving in Lower Saxony, Germany, November 2014-October 2015
• Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
• Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease
• Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in the GNE Gene
• Staphylococcal scalded skin syndrome in a premature newborn caused by methicillin-resistant Staphylococcus aureus: case report
• Suitability of Different Diagnostic Platforms for Virological Testing of Blood Samples from Cornea Donors
• T-LAK cell-originated protein kinase (TOPK) enhances androgen receptor splice variant (ARv7) and drives androgen-independent growth in prostate cancer
• 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 amphibian's spleen as a source of biomarkers for ecotoxicity assessment: Historical review and trends
• The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C
• The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings
• The molecular mechanism of sialic acid transport mediated by Sialin
• The mosaic puzzle of the therapeutic monoclonal antibodies and antibody fragments - A modular transition from full-length immunoglobulins to antibody mimetics
• The socioeconomic impact of tuberculosis on children and adolescents: a scoping review and conceptual framework
• TP53 codon 72 Arg/Arg polymorphism is associated with a higher risk for inflammatory bowel disease development
• Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement
• 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