Mucolipidosis 3 Latest Advances
Find the Latest Research About Mucolipidosis 3
Last Updated: 09/26/2026
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Found 1636 publications
Progressive myoclonic ataxia due to late-onset sialidosis.
Journal: Practical neurology
Published: July 31, 2026
Bilateral Corneal Dystrophy Revealing Mucolipidosis Type IV: A Case Report.
Journal: Cureus
Published: July 17, 2026
M6PR/IGF2R double-knockout supplies therapeutic sources for mucolipidosis II and Niemann-Pick C2.
Journal: The Journal of biological chemistry
Published: July 16, 2026
Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.
Journal: Circulation. Genomic and precision medicine
Published: June 02, 2026
Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View.
Journal: Metabolites
Published: May 28, 2026
Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.
Journal: Turkish archives of pediatrics
Published: May 05, 2026
Isolated cardiac mucolipidosis type III α/β mimicking Fabry's disease: a case report highlighting the role of pathology and genetics in diagnosis.
Journal: European heart journal
Published: April 28, 2026
Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.
Journal: Human molecular genetics
Published: April 03, 2026
Rare Heterozygous Loss-of-Function Variants in MCOLN1 Identified in Two Sporadic Patients with α-Synucleinopathies.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 02, 2026
Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.
Journal: Advances in experimental medicine and biology
Published: March 31, 2026
Last Updated: 09/26/2026