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About 120 results

ALLMedicine™ Abetalipoproteinemia Center

Research & Reviews  46 results

Current Diagnosis and Management of Abetalipoproteinemia.
https://doi.org/10.5551/jat.RV17056
Journal of Atherosclerosis and Thrombosis; Takahashi M, Okazaki H et. al.

May 17th, 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 14th, 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.
https://doi.org/10.1053/j.gastro.2020.11.040
Gastroenterology Bredefeld C, Peretti N et. al.

Dec 4th, 2020 - New Classification and Management of Abetalipoproteinemia and Related Disorders.|2020|Bredefeld C,Peretti N,Hussain MM, ,|

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presen...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957982
Journal of Clinical Laboratory Analysis; Rodríguez Gutiérrez PG, González García JR et. al.

Dec 1st, 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.
https://doi.org/10.1007/978-981-15-6082-8_4
Advances in Experimental Medicine and Biology; Iqbal J, Jahangir Z et. al.

Jul 24th, 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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Clinicaltrials.gov  1 results

Vitamin Replacement in Abetalipoproteinemia
https://clinicaltrials.gov/ct2/show/NCT00004574

Mar 3rd, 2008 - Fat-soluble vitamins are normally absorbed from the diet through the gastrointestinal tract and incorporated into fat-rich particles called chylomicrons made in the intestinal wall. Chylomicrons are secreted by the intestine into the bloodstream. ...

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News  1 results

The Emerging Epidemic of Nonalcoholic Fatty Liver Disease
https://www.medscape.com/viewarticle/735888

Jan 20th, 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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