Glycogen Storage Disease Type IIb
"Glycogen Storage Disease Type IIb" 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.
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
| Descriptor ID |
D052120
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| MeSH Number(s) |
C10.597.606.643.455.562 C14.280.238.458 C16.320.322.201 C16.320.565.202.449.510 C18.452.648.202.449.510
|
| Concept/Terms |
Glycogen Storage Disease Type IIb- Glycogen Storage Disease Type IIb
- Danon Disease
- Glycogen Storage Cardiomyopathy
- Cardiomyopathies, Glycogen Storage
- Cardiomyopathy, Glycogen Storage
- Glycogen Storage Cardiomyopathies
- Glycogen Storage Disease IIb
- Glycogen Storage Disease Limited to the Heart
- Lysosomal Glycogen Storage Disease with Normal Acid Maltase
- Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
- Pseudoglycogenosis 2
- Pseudoglycogenosis 2s
- Pseudoglycogenosis II
- Pseudoglycogenosis IIs
- Vacuolar Cardiomyopathy and Myopathy, X-linked
- Vacuolar Cardiomyopathy and Myopathy, X linked
- X-Linked Vacuolar Cardiomyopathy and Myopathy
- X Linked Vacuolar Cardiomyopathy and Myopathy
- Antopol Disease
- Disease, Antopol
- Glycogen Storage Disease Type 2B
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Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type IIb".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type IIb".
This graph shows the total number of publications written about "Glycogen Storage Disease Type IIb" by people in this website by year, and whether "Glycogen Storage Disease Type IIb" was a major or minor topic of these publications.
Below are the most recent publications written about "Glycogen Storage Disease Type IIb" by people in Profiles.
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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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Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies. J Am Heart Assoc. 2021 12 07; 10(23):e022544.
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Cardiac Transplantation in Danon Disease. J Card Fail. 2022 04; 28(4):664-669.
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Fasciculoventricular and atrioventricular accessory pathways in patients with Danon disease and preexcitation: A multicenter experience. Heart Rhythm. 2021 07; 18(7):1194-1202.
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Cardiac Magnetic Resonance Imaging in Danon Disease Cardiomyopathy. JACC Cardiovasc Imaging. 2021 02; 14(2):514-516.
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Apical Sparing Strain Pattern in Danon Disease: Insights From a Global Registry. JACC Cardiovasc Imaging. 2020 12; 13(12):2689-2691.
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Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease. Sci Transl Med. 2020 03 18; 12(535).
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Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy. J Mol Cell Cardiol. 2019 08; 133:199-208.
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Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation. Mol Genet Genomic Med. 2019 05; 7(5):e638.
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Danon disease: Gender differences in presentation and outcomes. Int J Cardiol. 2019 07 01; 286:92-98.