Mucolipidosis Type 4 Latest Advances

Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.

Journal: Advances in experimental medicine and biology

Published: March 31, 2026

A rare encounter mucolipidosis type II alpha/beta: A case report.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: March 14, 2026

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.

Journal: Clinical genetics

Published: January 07, 2026

Rodent models with neuraminidase deficiencies.

Journal: Archives of biochemistry and biophysics

Published: November 22, 2025

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Journal: Orphanet journal of rare diseases

Published: October 31, 2025

Alterations in secondary lipids are associated with neuroinflammation in the brain of Neu1-deficient mice.

Journal: Cell and tissue research

Published: October 31, 2025

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Journal: Epilepsia open

Published: October 25, 2025

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.

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.

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

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

Journal: Disease models & mechanisms

Published: July 24, 2025

Mucolipidosis Type 4 Latest Advances

Find the Latest Research About Mucolipidosis Type 4

Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.

Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.

A rare encounter mucolipidosis type II alpha/beta: A case report.

A rare encounter mucolipidosis type II alpha/beta: A case report.

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.

Rodent models with neuraminidase deficiencies.

Rodent models with neuraminidase deficiencies.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Alterations in secondary lipids are associated with neuroinflammation in the brain of Neu1-deficient mice.

Alterations in secondary lipids are associated with neuroinflammation in the brain of Neu1-deficient mice.

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

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.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

Prevalence of lysosomal storage disease (LSD) in Malaysia.

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.

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

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

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.