About 93 results

ALLMedicine™ Abetalipoproteinemia Center

Research & Reviews  36 results

Current Diagnosis and Management of Abetalipoproteinemia.
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 ...

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intes...
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...

New Classification and Management of Abetalipoproteinemia and Related Disorders.
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...

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presen...
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...

Microsomal Triglyceride Transfer Protein: From Lipid Metabolism to Metabolic Diseases.
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 ...

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News  1 results

The Emerging Epidemic of Nonalcoholic Fatty Liver Disease

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...

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