Mucolipidosis Type 4 Latest Advances

Find the Latest Research About Mucolipidosis Type 4

Last Updated: 02/24/2026

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Found 1614 publications

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

When it's not juvenile idiopathic arthritis: unmasking monogenic mimickers in children monogenic mimickers of chronic arthritis.

Journal: European journal of pediatrics
Published: October 22, 2025

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Journal: The Malaysian journal of pathology
Published: August 29, 2025

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

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.

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.

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.

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.

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.

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.

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.

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

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.

TPCs: FROM PLANT TO HUMAN.

Journal: Physiological reviews
Published: April 08, 2025
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Last Updated: 02/24/2026