Sialidosis Latest Advances

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II.

Journal: Cell communication and signaling : CCS

Published: August 11, 2025

Pneumothorax as a life-threatening long-term complication with mucolipidosis type II.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: August 07, 2025

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

Atypical presentation of mucolipidosis type III.

Journal: BMJ case reports

Published: July 16, 2025

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.

Journal: BMC medical genomics

Published: July 03, 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

Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.

Journal: Journal of inherited metabolic disease

Published: May 22, 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