Mucolipidosis Type 4 Latest Advances

Find the Latest Research About Mucolipidosis Type 4

Last Updated: 06/30/2026

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Found 1630 publications

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Cardiomyopathy and Sudden Cardiac Death as a Rare Presentation of Mucolipidosis Type III in a Family With Compound Heterozygous Variants in GNPTAB.

Journal: Circulation. Genomic and precision medicine
Published: June 02, 2026

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders.

Journal: Turkish archives of pediatrics
Published: May 05, 2026

Isolated cardiac mucolipidosis type III α/β mimicking Fabry's disease: a case report highlighting the role of pathology and genetics in diagnosis.

Isolated cardiac mucolipidosis type III α/β mimicking Fabry's disease: a case report highlighting the role of pathology and genetics in diagnosis.

Journal: European heart journal
Published: April 28, 2026

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.

Journal: Advances in experimental medicine and biology
Published: March 31, 2026

Elevated Creatine Kinase in Mucolipidosis Type IV: Investigating an Atypical Manifestation and Its Clinical Complications.

Elevated Creatine Kinase in Mucolipidosis Type IV: Investigating an Atypical Manifestation and Its Clinical Complications.

Journal: Cureus
Published: March 24, 2026

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

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

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: March 14, 2026

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II.

Journal: Orphanet journal of rare diseases
Published: March 11, 2026

Zoledronic acid ameliorates multiple organ pathologies in a murine model of mucolipidosis II by partially restoring mannose-6-phosphate-mediated lysosomal hydrolase activities.

Zoledronic acid ameliorates multiple organ pathologies in a murine model of mucolipidosis II by partially restoring mannose-6-phosphate-mediated lysosomal hydrolase activities.

Journal: Molecular genetics and metabolism
Published: February 11, 2026

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Journal: Molecular genetics and metabolism
Published: February 06, 2026

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.

Journal: Clinical genetics
Published: January 07, 2026

Rodent models with neuraminidase deficiencies.

Rodent models with neuraminidase deficiencies.

Journal: Archives of biochemistry and biophysics
Published: November 22, 2025

Peroxisome-derived ether lipids regulate lysosomal exocytosis.

Peroxisome-derived ether lipids regulate lysosomal exocytosis.

Journal: The EMBO journal
Published: November 18, 2025
Showing 1-12 of 1,630

Last Updated: 06/30/2026