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Abetalipoproteinemia

What is Abetalipoproteinemia?

Abetalipoproteinemia is a rare disorder causing interference with the normal absorption of fat and fat-soluble vitamins from food.

 

Abetalipoproteinemia is a rare disorder causing interference with the normal absorption of fat and fat-soluble vitamins from food.
Acknowledgement of Abetalipoproteinemia has not been added yet.
Prevalence Information of Abetalipoproteinemia has not been added yet.
Synonyms for Abetalipoproteinemia has not been added yet.
Cause of Abetalipoproteinemia has not been added yet.
Failure to grow in infancy Fatty, pale stools Frothy stools Foul smelling stools Protruding abdomen Mental retardation/developmental delay Dyspraxia, evident by age ten Muscle weakness Slurred speech Scoliosis (curvature of the spine) Progressive decreased vision Balance and coordination problems Retinitis Pigmentosa
Diagnosis of Abetalipoproteinemia has not been added yet.
Diagnostic tests of Abetalipoproteinemia has not been added yet
Treatments of Abetalipoproteinemia has not been added yet.
Prognosis of Abetalipoproteinemia has not been added yet.
Tips or Suggestions of Abetalipoproteinemia has not been added yet.
References of Abetalipoproteinemia has not been added yet.
Abeta Research Study at UPenn Created by jtabita
Last updated 15 Jan 2013, 04:16 PM

Posted by jtabita
15 Jan 2013, 04:16 PM

Hello Everyone, My name is Jenn and I am a research coordinator working with Dr. Daniel Rader at the University of Pennsylvania (UPenn) in Philadelphia, PA. I hope that you may be interested in assisting us with our research study to better understand Abetalipoproteinemia. The purpose of this study is to verify if cells called "induced pluripotent stem (iPS) cells" that are created using a technology have characteristics similar to the cells collected from the body. We are also studying how changes in certain genes affect how these cells work and behave. The iPS technology allows researchers to take cells from blood samples and to make different cells which can be grown in the laboratory, stored and studied in the future. We will use the cells collected to create a type of cell known as a pluripotent cell. This type of cell can then be used to create different types of tissue, including liver cells that are difficult to obtain otherwise. The information obtained in this study will be used to better understand how changes in genes lead to disorders like Abetalipoproteinemia and will aid in the discovery and development of better therapeutic options for patients. The study involves a single blood draw. If you do not live close to Philadelphia or if it is not easy for you to travel to UPenn, I will mail you a package containing instructions and all the necessary materials to have the blood drawn at your doctor's office or a laboratory of your choice. If you are able to travel, the visit can be conducted in the Clinical and Translational Research Center at the Hospital of the University of Pennsylvania. Thank you so much for taking the time to read this post. Please feel free to contact me if you are interested in participating, would like more information or have any questions. Take care, Jennifer Tabita-Martinez Research Coordinator Senior University of Pennsylvania (P) 215-615-3421 jtabita@mail.med.upenn.edu

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Abeta Research Study at UPenn

Created by jtabita | Last updated 15 Jan 2013, 04:16 PM


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