Rhizomelic syndrome

Common Name(s)

Rhizomelic syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rhizomelic syndrome" 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 "Rhizomelic syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
 

Author(s): Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J A Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita

Journal: J. Lipid Res.. 2012 Apr;53(4):653-63.

 

Many cell surface proteins in mammalian cells are anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). The predominant form of mammalian GPI contains 1-alkyl-2-acyl phosphatidylinositol (PI), which is generated by lipid remodeling from diacyl PI. The conversion ...

Last Updated: 31 Dec 1969

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Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata.
 

Author(s): R B Schutgens, I W Bouman, A A Nijenhuis, R J Wanders, M E Frumau

Journal: Clin. Chem.. 1993 Aug;39(8):1632-7.

 

Profiles of saturated very-long-chain (> C22) fatty acids were studied in plasma, fibroblasts, erythrocytes, platelets, and leukocytes of patients affected by peroxisomal disorders such as Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD), and classic rhizomelic chondrodysplasia ...

Last Updated: 31 Dec 1969

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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 "Rhizomelic syndrome" 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.