• A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
• A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
• A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child
• Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease
• Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study
• Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level
• An Intravenous Fish Oil-Based Lipid Emulsion Successfully Treats Intractable Pruritus and Cholestasis in a Patient with Microvillous Inclusion Disease
• An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca²⁺ dynamics
• Analysis of a child with Microvillus inclusion disease due to variants of MYO5B gene and a literature review
• Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease
• Approach to Congenital Diarrhea and Enteropathies (CODEs)
• Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
• Autophagy in Vici syndrome, mucolipidosis type IV and intractable epilepsy
• Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3
• Cathepsin-Mediated Alterations in TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting
• Challenges of Microvillus Inclusion Disease in the NICU
• Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene
• Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review
• Clinical and genetic characteristics of type I sialidosis patients in mainland China
• Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta
• Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
• Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1
• Clinical Characterization of Mucolipidoses II and III: A Multicenter Study
• Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study
• Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature
• Congenital Diarrhea and Enteropathies in Infants: Approach to Diagnosis
• Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China
• Detection of Glycosaminoglycans in Biological Specimens
• Diagnostics and Therapy of Human Diseases - Focus on Sialidases
• Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in <em>Munc18-2</em>-Deficient Intestinal Organoids
• Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
• Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-Lined Inclusions and Alterations in Sodium Transporters
• Effects of Human Mesenchymal Stem Cells Transduced with Superoxide Dismutase on Imiquimod-Induced Psoriasis-Like Skin Inflammation in Mice
• Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology
• Establishment and characterization of Neu1-knockout zebrafish and its abnormal clinical phenotypes
• Evaluation of intestinal biopsies for pediatric enteropathy: a proposed immunohistochemical panel approach
• Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV
• Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1
• Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review
• Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing
• Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects
• Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
• GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms
• Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone
• Human TRPML1 channel structures in open and closed conformations
• Hurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases - Is it Mucolipidosis?
• Identification of intestinal ion transport defects in microvillus inclusion disease
• Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
• Intestinal failure and transplantation in microvillous inclusion disease
• Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease
• Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
• Loss of MYO5B Leads to Reductions in Na⁺ Absorption With Maintenance of CFTR-Dependent Cl^- Secretion in Enterocytes
• LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway
• Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
• Manifestations of Mucolipidosis III in the hand: avascular necrosis of multiple carpal bones
• Microvillous Inclusion Disease as a Cause of Protracted Diarrhea
• Microvillous inclusion disease as a cause of severe congenital diarrhea. Case report
• Microvillus inclusion disease, a diagnosis to consider when abnormal stools and neurological impairments run together due to a rare syntaxin 3 gene mutation
• MUCOLIPIDOSIS II INFANTS PRESENTING WITH SKELETAL DEFORMITIES MIMICKING RICKETS AND A NEW MUTATION IN GNPTAB GENE
• Mucolipidosis type IV and corneal lesion: A pediatric case report
• Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria
• Mutations in Myosin 5B in Children With Early-onset Cholestasis
• Myelin extracellular leaflet compaction requires apolipoprotein D membrane management to optimize lysosomal-dependent recycling and glycocalyx removal
• MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation
• Myosin 5b loss of function leads to defects in polarized signaling: implication for microvillus inclusion disease pathogenesis and treatment
• Neu1 deficiency increases the susceptibility of zebrafish to Edwardsiella piscicida infection via lysosomal dysfunction
• Neuraminidase 1 deficiency attenuates cardiac dysfunction, oxidative stress, fibrosis, inflammatory via AMPK-SIRT3 pathway in diabetic cardiomyopathy mice
• Neuraminidases 3 and 4 regulate neuronal function by catabolizing brain gangliosides
• Neurophysiolgical implications in sialidosis type 1: a case report
• Novel compound heterozygous MCOLN1 mutations identified in a Japanese girl with severe developmental delay and thin corpus callosum
• Novel H5 clade 2.3.4.6 viruses with both alpha-2,3 and alpha-2,6 receptor binding properties may pose a pandemic threat
• Novel H5 clade 2.3.4.6 viruses with both α-2,3 and α-2,6 receptor binding properties may pose a pandemic threat
• Patient-derived enteroids provide a platform for the development of therapeutic approaches in microvillus inclusion disease
• Perioperative management of patients with Mucolipidosis II and III: Lessons from a case series
• Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV
• Peripheral nerve ultrasound findings in mucolipidosis type 3
• Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
• Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II
• Regulation of TRPML1 function
• Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II
• Sialidosis Type 1 Without Cherry-Red Spot
• Sialidosis type 1 without cherry-red spots: a case report and literature review
• Sialidosis type I presenting with a novel mutation and advanced neuroimaging features
• Sialylation of neurites inhibits complement-mediated macrophage removal in a human macrophage-neuron Co-Culture System
• Skeletal muscle cells derived from mouse skin cultures
• Structural basis of dual Ca²⁺/pH regulation of the endolysosomal TRPML1 channel
• Structural insights into how GlcNAc-1-phosphotransferase directs lysosomal protein transport
• Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation
• The carpal tunnel syndrome in children
• The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV
• The localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease
• The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase
• The putative Escherichia coli dehydrogenase YjhC metabolises two dehydrated forms of N-acetylneuraminate produced by some sialidases
• The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
• Trafficking Ion Transporters to the Apical Membrane of Polarized Intestinal Enterocytes
• TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway
• Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review
• Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study
• Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers
• Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells