• 50 Years Ago in TheJournalofPediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same
• A Functional Relationship Between UNC45A and MYO5B Connects Two Rare Diseases With Shared Enteropathy
• A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
• AAV-mediated gene therapy for sialidosis
• Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level
• An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca²⁺ dynamics
• Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
• 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)
• Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)
• Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients
• Cell differentiation is disrupted by MYO5B loss through Wnt/Notch imbalance
• Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study
• Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
• Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II
• CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
• 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
• Congenital microvillus inclusion disease in a child
• Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV
• 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
• Diagnosis of mucolipidosis type suggested by placental pathology: report of a case
• Dilated cardiomyopathy in mucolipidosis type 2
• Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
• Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases
• Expanding the clinical spectrum in trichohepatoenteric syndrome
• 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
• Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review
• Genome editing in mucopolysaccharidoses and mucolipidoses
• Glycosaminoglycans in mucopolysaccharidoses and other disorders
• Hematological Findings in Lysosomal Storage Disorders: A Perspective from the Medical Laboratory
• Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives
• Hurler Phenotype with Vacuolated Lymphocytes and Elevated Lysosomal Hydrolases - Is it Mucolipidosis?
• Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
• Impaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient
• Importance of lysosomal storage diseases in rheumatology
• In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV
• Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation
• Late onset visual loss due to retinal atrophy in atypical mucolipidosis type IV
• Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
• Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1
• LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway
• Lysosomal enzyme analysis of mucolipidosis type II alpha/beta and type III alpha/beta in two Chinese pedigrees
• 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
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV
• Microvillus inclusion disease with novel MYO5B pathogenic variants
• Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed
• Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells
• Mucolipidoses Overview: Past, Present, and Future
• Mucolipidosis and III with neurological symptoms due to spinal cord compression
• Mucolipidosis II
• Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression
• Mucolipidosis type II and type III: a systematic review of 843 published cases
• Mucolipidosis Type IV in Omani Families with a Novel <em>MCOLN1</em> Mutation: Search for Evidence of Founder Effect
• Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect
• Mucolipidosis: A mimicker of juvenile idiopathic arthritis
• Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
• MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlation
• 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
• Neurophysiolgical implications in sialidosis type 1: a case report
• Non-immune hydrops fetalis due to infantile sialidosis
• Novel <em>MYO5B</em> mutation in microvillous inclusion disease of Syrian ancestry
• Novel Pathogenic Variant in the <em>NEU1</em> Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot
• Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
• Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
• Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
• 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
• Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
• Possible Choroidal Hyperpermeability in Cherry-Red Spot: A Connection to Transretinal Hyperreflective Foveola in Type 1 Sialidosis
• Progress in elucidating pathophysiology of mucolipidosis IV
• Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways
• 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
• Sialidase neu4 deficiency is associated with neuroinflammation in mice
• Structural insights into how GlcNAc-1-phosphotransferase directs lysosomal protein transport
• Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase
• Teaching Video NeuroImage: Clues in Myoclonus Evaluation: When to Consider Sialidosis
• The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV
• The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection
• The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
• TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease
• Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice
• Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities
• UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation
• UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
• 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
• White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology