← Back to Conditions

Mucolipidosis

disorder
SNOMED 70528007CUI C0026697

Overview

Mucolipidosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Mucolipidoses" from the MEDLINE/PubMed database.

Sort:
Mucolipidosis type II and type III: a systematic review of 843 published cases.
[object Object], [object Object], [object Object] et al. · Genet Med · 2021
PMID: 34172897Meta-Analysis
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
[object Object], [object Object], [object Object] et al. · J Pediatr Gastroenterol Nutr · 2021
PMID: 33976085Meta-Analysis
Genetic Insights and Clinical Implications ofMutations in Sialidosis.
[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2025
PMID: 40004480ReviewFull text (PMC)
Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.
[object Object], [object Object], [object Object] et al. · Cell Mol Gastroenterol Hepatol · 2024
PMID: 38307491ReviewFull text (PMC)
Intracellular Trafficking Defects in Congenital Intestinal and Hepatic Diseases.
[object Object], [object Object], [object Object] · Traffic · 2024
PMID: 39187475Review
Approach to Congenital Diarrhea and Enteropathies (CODEs).
[object Object], [object Object] · Indian J Pediatr · 2024
PMID: 38105403Review
Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.
[object Object], [object Object] · Glycoconj J · 2023
PMID: 38147151Review
Altered MYO5B Function Underlies Microvillus Inclusion Disease: Opportunities for Intervention at a Cellular Level.
[object Object], [object Object], [object Object] · Cell Mol Gastroenterol Hepatol · 2022
PMID: 35660026ReviewFull text (PMC)
Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives.
[object Object], [object Object], [object Object] et al. · Bone · 2021
PMID: 33130340Review
Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low-Gamma-Glutamyltransferase Cholestasis.
[object Object], [object Object], [object Object] et al. · Hepatology · 2020
PMID: 32583448ReviewFull text (PMC)
Search all PubMed articles for Mucolipidosis

Research data from MEDLINE/PubMed

Related Conditions

Sialidosis(child)
I-cell disease(child)
Mucolipidosis type IV(child)
Disorder of lysosomal enzyme(parent)
Lysosomal storage disease(parent)

Quick Facts

SNOMED CT
70528007
UMLS CUI
C0026697
Fully Specified Name
Mucolipidosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.