Disease: Sialidosis type 1 and 3
- 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 Ca<sup>2+</sup> 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<sup>+</sup> Absorption With Maintenance of CFTR-Dependent Cl<sup>-</sup> 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 Ca<sup>2+</sup>/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