 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
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| 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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2006 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 2 | 0 | 2 |
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Below are the most recent publications written about "Glycogen Storage Disease Type IIb" by people in Profiles.
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Bui QM, Hong KN, Kraushaar M, Ma GS, Brambatti M, Kahn AM, Battiha CE, Boynton K, Storm G, Mestroni L, Taylor MRG, DeMaria AN, Adler EA. 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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Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E. 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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Bui QM, Hong KN, Kraushaar M, Ma GS, Brambatti M, Kahn AM, Bougault C, Boynton K, Mestroni L, Taylor MRG, Adler E. 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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Chi C, Riching AS, Song K. Lysosomal Abnormalities in Cardiovascular Disease. Int J Mol Sci. 2020 Jan 27; 21(3).
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Chi C, Leonard A, Knight WE, Beussman KM, Zhao Y, Cao Y, Londono P, Aune E, Trembley MA, Small EM, Jeong MY, Walker LA, Xu H, Sniadecki NJ, Taylor MR, Buttrick PM, Song K. LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion. Proc Natl Acad Sci U S A. 2019 01 08; 116(2):556-565.
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Hashem SI, Murphy AN, Divakaruni AS, Klos ML, Nelson BC, Gault EC, Rowland TJ, Perry CN, Gu Y, Dalton ND, Bradford WH, Devaney EJ, Peterson KL, Jones KL, Taylor MRG, Chen J, Chi NC, Adler ED. Impaired mitophagy facilitates mitochondrial damage in Danon disease. J Mol Cell Cardiol. 2017 07; 108:86-94.
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Rowland TJ, Sweet ME, Mestroni L, Taylor MR. Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy. J Cell Sci. 2016 06 01; 129(11):2135-43.
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D'souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, Mestroni L, Taylor MR. Danon disease: clinical features, evaluation, and management. Circ Heart Fail. 2014 Sep; 7(5):843-9.
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Miani D, Taylor M, Mestroni L, D'Aurizio F, Finato N, Fanin M, Brigido S, Proclemer A. Sudden death associated with danon disease in women. Am J Cardiol. 2012 Feb 01; 109(3):406-11.
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Taylor MRG, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X, Graw S, Carniel E, Barnes C, Quan D, Prall R, Lovell MA, Mierau G, Ruegg P, Mandava N, Bristow MR, Towbin JA, Mestroni L. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007; 52(10):830-835.
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