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Sphingomyelin/cholesterol lipidosis

disorder
SNOMED 58459009CUI C0028064

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

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

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Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.
[object Object], [object Object], [object Object] · Mov Disord · 2019
PMID: 30726573Meta-AnalysisFull text (PMC)
[Acid sphingomyelinase deficiency: A review].
[object Object], [object Object], [object Object] et al. · Rev Med Interne · 2025
PMID: 40414757Review
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
[object Object], [object Object], [object Object] et al. · Cell Biochem Funct · 2024
PMID: 38715125Review
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
[object Object], [object Object], [object Object] et al. · Biomolecules · 2024
PMID: 38397448ReviewFull text (PMC)
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2023
PMID: 37069638ReviewFull text (PMC)
Bidirectional Control between Cholesterol Shuttle and Purine Signal at the Central Nervous System.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2022
PMID: 35955821ReviewFull text (PMC)
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
[object Object], [object Object], [object Object] et al. · Dig Liver Dis · 2020
PMID: 31902560Review
Addressing neurodegeneration in lysosomal storage disorders: Advances in Niemann Pick diseases.
[object Object], [object Object] · Neuropharmacology · 2020
PMID: 31734384Review
[Intracellularly Degradable Polyrotaxanes for Therapeutic Applications].
[object Object] · Yakugaku Zasshi · 2019
PMID: 30713223Review

Quick Facts

SNOMED CT
58459009
UMLS CUI
C0028064
Fully Specified Name
Sphingomyelin/cholesterol lipidosis (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.