• A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing
• A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot
• ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
• Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study
• Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient
• An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism
• An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking
• An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca²⁺ dynamics
• Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model
• Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†
• Blueberry muffin rash and thrombocytopenia in a newborn with mucolipidosis type II (I-cell disease) masquerading as congenital infections
• Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
• Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review
• CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
• Constitutive activity of the human TRPML2 channel induces cell degeneration
• Corneal imaging with optical coherence tomography assisting the diagnosis of mucolipidosis type IV
• Cryo-electron microscopy structure of the lysosomal calcium-permeable channel TRPML3
• Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China
• Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses
• Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis
• Drosophila TRPML forms PI(3,5)P2-activated cation channels in both endolysosomes and plasma membrane
• 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
• Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
• Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III
• ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV
• Establishment and characterization of Neu1-knockout zebrafish and its abnormal clinical phenotypes
• Exploiting Alternative Brush Border Trafficking Routes to Treat Microvillous Inclusion Disease
• Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
• Function and regulation of TRP family channels in C. elegans
• Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology
• GNPTAB c.2404C &gt; T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
• GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
• I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
• Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
• 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
• Impaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient
• In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV
• Juvenile sialidosis: a rare case and review of the literature
• Lacritin and other autophagy associated proteins in ocular surface health
• Late onset visual loss due to retinal atrophy in atypical mucolipidosis type IV
• Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1
• Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 Activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease
• Lysosomal Ca²⁺ Signaling is Essential for Osteoclastogenesis and Bone Remodeling
• 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 storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study
• Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
• Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center
• Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction
• Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders
• Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs
• Mice lacking mannose 6-phosphate uncovering enzyme activity have a milder phenotype than mice deficient for N-acetylglucosamine-1-phosphotransferase activity
• Microvillous atrophy: atypical presentations
• Modeling Microvillus Inclusion Formation In Vitro
• Molecular and cellular basis of lysosomal transmembrane protein dysfunction
• Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins
• Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation
• Mucolipidosis Type II Affecting 1 Fetus and Placental Disk of a Dichorionic-Diamnionic Twin Gestation: A Case Report and Review of the Literature
• Mucolipidosis type III alpha/beta: the first characterization of this rare disease by autopsy
• Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy
• Mucolipidosis type IV and corneal lesion: A pediatric case report
• Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy
• Multimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant
• Multiple foraminal compression in a child with sialidosis type 2
• Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood
• MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome
• Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel <em>GNPTAB</em> mutation, and a concomitant heterozygous change in <em>SERPINF1</em> inherited from the mother
• Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
• Neuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2
• Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
• Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
• 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
• Oral findings in patients with mucolipidosis type III
• PI(3,5)P(2) controls membrane trafficking by direct activation of mucolipin Ca(2+) release channels in the endolysosome
• Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders
• Radiolucent lesions of the maxillofacial complex in a patient with mucolipidosis type II (MLSII): case report
• Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells
• Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1
• Roles of CUP-5, the Caenorhabditis elegans orthologue of human TRPML1, in lysosome and gut granule biogenesis
• Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016)
• Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2
• Severity score system for progressive myelopathy: development and validation of a new clinical scale
• Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
• Sialidosis type I with neoplasms in siblings: the first clinical cases
• Skeletal muscle cells derived from mouse skin cultures
• Sleep-disordered breathing in children with mucolipidosis
• Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome
• TGN exit of the cation-independent mannose 6-phosphate receptor does not require acid hydrolase binding
• The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
• The first genetically confirmed Japanese patient with mucolipidosis type IV
• The interactomics of sortilin: an ancient lysosomal receptor evolving new functions
• The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
• Thymoquinone from nutraceutical black cumin oil activates Neu4 sialidase in live macrophage, dendritic, and normal and type I sialidosis human fibroblast cells via GPCR Galphai proteins and matrix metalloproteinase-9
• Total hip arthroplasty in patients with common pediatric hip orthopedic pathology
• TRPML1 gating modulation by allosteric mutations and lipids (Design of allosteric mutations that recapitulate the gating of TRPML1 )
• TRPML1 gating modulation by allosteric mutations and lipids (Design of allosteric mutations that recapitulate the gating of TRPML1)
• Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis