Mucolipidosis III Gamma

Common Name(s)

Mucolipidosis III Gamma

Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by {11:Raas-Rothschild et al., 2000}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis III Gamma" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mucolipidosis III Gamma" returned 1 free, full-text research articles on human participants. First 3 results:

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
 

Author(s): A Raas-Rothschild, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler

Journal: J. Med. Genet.. 2004 Apr;41(4):e52.

 

Last Updated: 2 Apr 2004

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Reviews from the PubMed Database

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The terms "Mucolipidosis III Gamma" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.