abetalipoproteinemia/albumin

Abetalipoproteinemia (ABL) is characterized by acanthocytosis, hypocholesterolemia, and steatorrhea. Here, we describe a case of ABL associated with rickets and dysmorphic findings and the subsequent therapeutic course in an 18-month-old male referred for evaluation for failure to thrive and chronic

OBJECTIVE Infantile persistent diarrhea series are not well documented in the literature. Evaluating the literature, the aim of this study was to document persistent diarrhea cases followed in our center and to constitute a practical diagnostic algorithm for the pediatrician by means of surveying

The intracellular concentration of the microsomal triglyceride transfer protein large subunit (lMTP), the abetalipoproteinemia gene product, is tightly controlled. To date, attempts at overexpressinglMTP in vivo or in vitro have been unsuccessful. We successfully overexpressed lMTP in HepG2 cells

Anemia, edema, and length and weight below the 10th tile were the presenting signs in an infant with cystic fibrosis. She had a peripheral blood smear characterized by poikylocytosis, acanthocytosis and anisocytosis; low serum total proteins, albumin, and tocopherol/total lipid ratio. Following two

BACKGROUND Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies,