When people are diagnosed with rare, incurable disorders, they and their families suffer both from the disease itself and from the lack of information and resources available. They become acutely aware that research can only be conducted when it is funded. This article presents our experiences following the diagnosis of our daughter with chorea-acanthocytosis, and describes how we established a...

This paper describes different mathematical algorithms used in the determination of mixed layer height (MLH) from the laser radar (lidar) signals. These methods are successfully applied to the indigenously developed portable lidar signals for retrieval of the depth of pollutants mixing in the lower atmosphere. The study also includes intercomparison between the methods. KeywordsPortable lidar, ...

A patient is reported with hypobetalipoproteinaemia and clinical features resembling the Bassen-Kornzweig syndrome (abetalipoproteinaemia) more completely than previously described. This supports a link between hypobetalipoproteinaemia and abetalipoproteinaemia and it is suggested that the Bassen-Kornzweig syndrome has a wide spectrum with serum betalipoprotein ranging from absent to normal. It...

Abetalipoproteinemia (ABL) is an inherited disorder of lipoprotein metabolism resulting from mutations in microsomal triglyceride transfer protein (MTTP). In addition to expression in the liver and intestine, MTTP is expressed in cardiomyocytes, and cardiomyopathy has been reported in several ABL cases. Using induced pluripotent stem cells (iPSCs) generated from an ABL patient homozygous for a ...

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents fr...