Disease: Neuraminidase deficiency with beta-galactosidase deficiency
- A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination
- A new heterozygous compound mutation in the <em>CTSA</em> gene in galactosialidosis
- A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
- Assays and Utilization of Enzymes Involved in Glycolipid Metabolism in Bacteria and Fungi
- CRISPR/Cas9-mediated BoaAOP2s editing alters aliphatic glucosinolate side-chain metabolic flux and increases the glucoraphanin content in Chinese kale
- Exploration of the Sialic Acid World
- Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases
- Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis
- Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept
- Gastrointestinal stromal tumor in perforated Meckel's diverticulum: a case report and literature review
- Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience
- Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency
- Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent
- Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
- Neuraminidase-1 promotes heart failure after ischemia/reperfusion injury by affecting cardiomyocytes and invading monocytes/macrophages
- New CTSA mutation in early infantile galactosialidosis
- Oral Positive Expiratory Pressure Device for Excessive Dynamic Airway Collapse Caused by Emphysema
- Overcoming the Next Barriers to Successful Therapy
- Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study
- Recent progress in development of transgenic silkworms overexpressing recombinant human proteins with therapeutic potential in silk glands
- Turning the backbone into an ankylosed concrete-like structure: Case report