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
[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
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
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2022
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
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
Search all PubMed articles for Sphingomyelin/cholesterol lipidosis
Research data from MEDLINE/PubMed
Related Conditions
Niemann-Pick disease, type D(child)
Niemann-Pick disease, type B(child)
Niemann-Pick disease, type A(child)
Niemann-Pick disease, type C(child)
NPD-A/B - Niemann Pick disease type A/B(child)
Lipoidosis(parent)
Recessive hereditary disorder (autosomal)(parent)
Lipid storage disease(parent)
Sphingolipidosis(parent)
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.