Glycogen Storage Disease Type IIb

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23 relevant articles (0 outcomes, 1 trials/studies) found for this Disease

Description: An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and MENTAL RETARDATION. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Also Known As:

Danon Disease; Glycogen Storage Disease IIb; Vacuolar Cardiomyopathy and Myopathy, X-linked; X-Linked Vacuolar Cardiomyopathy and Myopathy; Disease, Danon; Vacuolar Cardiomyopathy and Myopathy, X linked; X Linked Vacuolar Cardiomyopathy and Myopathy

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Glycogen Storage Disease (Glycogenosis)
3.	Mental Retardation (Idiocy)
4.	Cardiomyopathies (Cardiomyopathy)
5.	Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)

Experts

1.	Charron, Philippe: 1 article (03/2006)
2.	Echaniz-Laguna, Andoni: 1 article (03/2006)
3.	Nishino, Ichizo: 1 article (03/2006)
4.	Guiraud-Chaumeil, Christophe: 1 article (03/2006)
5.	Richard, Pascale: 1 article (03/2006)
6.	Tranchant, Christine: 1 article (03/2006)
7.	Mohr, Michel: 1 article (03/2006)
8.	Epailly, Eric: 1 article (03/2006)
9.	Ohno, K: 1 article (01/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Glycogen Storage Disease Type IIb:

alpha-Glucosidases (Acid Maltase)IBA

11/01/2007 - "Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease"
01/01/2007 - "Acid maltase activity of the muscle was normal, but the biopsied muscle specimen stained for lysosome-associated membrane protein-2 (LAMP-2), which has recently been reported to be deficient in muscles of patients with Danon disease"
06/01/2006 - "Hereditary autophagic vacuolar myopathy (AVM) may occur in several diseases including the rimmed vacuolar myopathies, acid maltase deficiency, Danon disease, infantile autophagic vacuolar myopathy and X-linked myopathy with excessive autophagy (XMEA)"
05/01/2006 - "The differential diagnosis of vacuolar myopathy includes acid maltase deficiency, Danon disease, and X-linked myopathy with excessive autophagy."
01/01/2000 - "Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)]"
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Lysosomal-Associated Membrane Protein 2IBA

07/01/2007 - "An inherent dysfunction of the late endosomal/lysosomal LAMP2 protein (Danon disease), was excluded on the basis of LAMP2 gene sequence analysis and LAMP2 protein levels"
01/01/2001 - "Mutations in the coding sequence of the lysosomal-associated membrane protein 2 (LAMP-2) were shown to cause a LAMP-2 deficiency in patients with Danon disease"
03/01/2008 - "Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy"
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