ALLMedicine™ Abetalipoproteinemia Center
Research & Reviews 36 results
Journal of Atherosclerosis and Thrombosis; Takahashi M, Okazaki H et. al.
May 18th, 2021 - Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing ...
https://doi.org/10.1097/MPG.0000000000003145 10.1186/1750-1172-5-24 10.1186/1750-1172-6-1 10.1136/jmg.2004.029454 10.1002/humu.9163 10.1186/s13023-016-0498-8. 10.1186/1750-1172-3-19
Journal of Pediatric Gastroenterology and Nutrition; Sissaoui S, Cochet M et. al.
Apr 15th, 2021 - Familial intestinal hypocholesterolemias, such as abetalipoproteinemia, hypobetalipoproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipop...
Gastroenterology Bredefeld C, Peretti N et. al.
Dec 5th, 2020 - New Classification and Management of Abetalipoproteinemia and Related Disorders.|2020|Bredefeld C,Peretti N,Hussain MM, ,|classification,diagnosis,genetics,diagnosis,classification,diagnosis,classification,diagnosis,genetics,therapy,diagnosis,etio...
Journal of Clinical Laboratory Analysis; Rodríguez Gutiérrez PG, González García JR et. al.
Dec 2nd, 2020 - Our aims were to describe the first Mexican patient with abetalipoproteinemia and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of 100 cases reported in the literature. We performed biochemical and molecul...
Advances in Experimental Medicine and Biology; Iqbal J, Jahangir Z et. al.
Jul 25th, 2020 - Microsomal triglyceride transfer protein (MTP) was first identified as an endoplasmic reticulum (ER) resident protein that helps in the transfer of neutral lipids to nascent apolipoprotein B (apoB). Its critical role in the assembly and secretion ...
News 1 results
Jan 21st, 2011 - The Spectrum of Nonalcoholic Fatty Liver Nonalcoholic fatty liver disease (NAFLD) includes the clinical-pathologic entities of steatosis (nonalcoholic fatty liver, or NAFL) and nonalcoholic steatohepatitis (NASH) with or without fibrosis and cirrh...