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Last Updated: 01/07/2026
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Found 1504 publications
Differential ion selectivity and disease-associated dysfunction of TRPML channels revealed by patient and engineered mutants.
Journal: The Journal of biological chemistry
Published: July 21, 2025
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: June 24, 2025
Disorders in sialic acid metabolism and sialylation pathway.
Journal: Life sciences
Published: June 18, 2025
Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.
Journal: International journal of molecular sciences
Published: June 08, 2025
Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: May 20, 2025
Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.
Journal: Fetal and pediatric pathology
Published: February 17, 2025
LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase.
Journal: Molecular biology of the cell
Published: February 12, 2025
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
Journal: International journal of molecular sciences
Published: January 28, 2025
Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.
Journal: International journal of molecular sciences
Published: January 27, 2025
Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Journal: Molecular genetics and metabolism reports
Published: January 08, 2025
Last Updated: 01/07/2026