The global abetalipoproteinemia management market is experiencing steady momentum as advancements in diagnostic technologies and treatment strategies meet the growing demand for specialized care for ...

Prader-Willi syndrome is caused by a genetic disorder of chromosome 15. It is a rare disorder present at birth that results in a number of physical, mental, and behavioral problems. A key feature of ...

These mice may serve as model to understand metabolism in hypolipidemia disorders associated with significant defects in lipid absorption such as abetalipoproteinemia and hypobetalipoproteinemia.

Although they are relatively rare, genetic abnormalities in dietary fat absorption, such as Anderson's disease, abetalipoproteinemia, and hypobetalipoproteinemia, require further study as well.

Brenner is a physician-scientist and president and chief executive officer of Sanford Burnham Prebys and lives in La Jolla. But taken altogether, rare diseases affect approximately 30 million ...

He did not report anosmia. Laboratory investigations showed normal plasma lactate, no acanthocytes were seen in a peripheral blood smear, and he did not have abetalipoproteinemia. Phytanic acid ...

The differential diagnosis includes other rare diseases—specifically Refsum disease, abetalipoproteinemia, mitochondrial disorders, and Charcot-Marie-Tooth disease. In Refsum disease, which has ...

Diarrhea involves passing loose stools frequently. It can result from various causes, such as infections and food intolerances, that may also lead to a loss of appetite. Often, people experiencing ...

Abetalipoproteinemia. This condition is also called Bassen-Kornzweig syndrome. Bassen-Kornzweig syndrome keeps your body from combining fat and protein to create molecules called lipoproteins.