• AAV-mediated gene therapy for sialidosis
• Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level
• Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review
• Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
• Approach to Congenital Diarrhea and Enteropathies (CODEs)
• Deep brain stimulation for Myoclonus in sialidosis I
• Detection of Glycosaminoglycans in Biological Specimens
• Diagnosis of mucolipidosis type Ⅱ suggested by placental pathology: report of a case
• Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
• GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway
• Gene therapy corrects the neurological deficits of mice with sialidosis
• Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A
• Glycosaminoglycans in mucopolysaccharidoses and other disorders
• Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory
• Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
• LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway
• Lysosomal enzyme analysis of mucolipidosis type II α/β and type III α/β in two Chinese pedigrees
• Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent
• Mucolipidosis: A mimicker of juvenile idiopathic arthritis
• Neu1 deficiency increases the susceptibility of zebrafish to Edwardsiella piscicida infection via lysosomal dysfunction
• Non-immune hydrops fetalis due to infantile sialidosis
• Novel Pathogenic Variant in the <em>NEU1</em> Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot
• Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease
• Possible Choroidal Hyperpermeability in Cherry-Red Spot: A Connection to Transretinal Hyperreflective Foveola in Type 1 Sialidosis
• Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
• Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption
• Short stature, dysostosis multiplex and storage disorder: mucolipidosis II
• Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase
• The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection
• TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease
• Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease
• Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study
• Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report