Lysosomal Storage Diseases
"Lysosomal Storage Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
| Descriptor ID |
D016464
|
| MeSH Number(s) |
C16.320.565.595 C18.452.648.595
|
| Concept/Terms |
Lysosomal Storage Diseases- Lysosomal Storage Diseases
- Disease, Lysosomal Storage
- Diseases, Lysosomal Storage
- Lysosomal Storage Disease
- Lysosomal Enzyme Disorders
- Disorder, Lysosomal Enzyme
- Disorders, Lysosomal Enzyme
- Enzyme Disorder, Lysosomal
- Enzyme Disorders, Lysosomal
- Lysosomal Enzyme Disorder
|
Below are MeSH descriptors whose meaning is more general than "Lysosomal Storage Diseases".
Below are MeSH descriptors whose meaning is more specific than "Lysosomal Storage Diseases".
This graph shows the total number of publications written about "Lysosomal Storage Diseases" by people in this website by year, and whether "Lysosomal Storage Diseases" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 2 | 0 | 2 |
| 2008 | 2 | 0 | 2 |
| 2009 | 3 | 0 | 3 |
| 2010 | 1 | 0 | 1 |
| 2012 | 2 | 0 | 2 |
| 2014 | 2 | 0 | 2 |
| 2015 | 1 | 1 | 2 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 1 | 2 |
| 2018 | 4 | 0 | 4 |
| 2019 | 1 | 0 | 1 |
| 2021 | 3 | 0 | 3 |
| 2022 | 2 | 0 | 2 |
| 2023 | 1 | 1 | 2 |
| 2024 | 2 | 0 | 2 |
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Below are the most recent publications written about "Lysosomal Storage Diseases" by people in Profiles.
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Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework. Mol Genet Metab. 2024 Nov; 143(3):108593.
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Developing a scoring system for gene curation prioritization in lysosomal diseases. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108572.
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International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review. J Am Coll Cardiol. 2023 10 17; 82(16):1628-1647.
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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients. Mol Genet Metab. 2023 02; 138(2):107508.
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New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. J Inherit Metab Dis. 2023 03; 46(2):335-347.
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Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy. Cells. 2022 04 09; 11(8).
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MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses. Mol Genet Metab. 2021 08; 133(4):372-377.
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Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nat Commun. 2021 06 09; 12(1):3495.
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Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation. FASEB J. 2021 05; 35(5):e21349.
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The rapidly evolving view of lysosomal storage diseases. EMBO Mol Med. 2021 02 05; 13(2):e12836.