Sialidosis Latest Advances

Atypical presentation of mucolipidosis type III.

Journal: BMJ case reports

Published: July 16, 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

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

TPCs: From plant to human.

Journal: Physiological reviews

Published: April 03, 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

Molecular Insights into the Regulation of GNPTAB by TMEM251.

Journal: bioRxiv : the preprint server for biology

Published: December 16, 2024

Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.

Journal: Journal of biomolecular structure & dynamics

Published: December 13, 2024

Filters

Atypical presentation of mucolipidosis type III.

Atypical presentation of mucolipidosis type III.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum

TPCs: From plant to human.

TPCs: From plant to human.

Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.

Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.

LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase.

LYSET facilitates integration of both the N- and C-terminal transmembrane helices/cytoplasmic domains of GlcNAc-1-phosphotransferase.

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease.

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.

Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.

Molecular Insights into the Regulation of GNPTAB by TMEM251.

Molecular Insights into the Regulation of GNPTAB by TMEM251.

Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.

Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.