Sphingolipid activator protein 1 deficiency

Common Name(s)

Sphingolipid activator protein 1 deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sphingolipid activator protein 1 deficiency" 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 "Sphingolipid activator protein 1 deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.
 

Author(s): B C Paton, B Schmid, B Kustermann-Kuhn, A Poulos, K Harzer

Journal: Biochem. J.. 1992 Jul;285 ( Pt 2)():481-8.

 

It has been shown that sphingolipid activator proteins (SAPs) 1 and 2 are encoded on the same gene along with two other putative activator proteins [F├╝rst, Machleidt & Sandhoff (1988) Biol. Chem. Hoppe-Seyler 369, 317-328 and O'Brien, Kretz, Dewji, Wenger, Esch & Fluharty (1988) ...

Last Updated: 21 Aug 1992

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Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
 

Author(s): X L Zhang, M A Rafi, G DeGala, D A Wenger

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1990 Feb;87(4):1426-30.

 

The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SAP-1, as determined by immunological ...

Last Updated: 22 Mar 1990

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sphingolipid activator protein 1 deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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