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About 118 results

ALLMedicine™ Abetalipoproteinemia Center

Research & Reviews  46 results

Vitamin E Deficiency
https://emedicine.medscape.com/article/126187-overview

Dec 21st, 2021 - Practice Essentials Vitamin E, one of the most important lipid-soluble antioxidant nutrients, is found in nut oils, sunflower seeds, whole grains, wheat germ, and spinach. Severe deficiency, as may occur in persons with abetalipoproteinemia or fat...

Spur Cell Anemia
http://emedicine.medscape.com/article/206314-overview

Jun 20th, 2021 - Practice Essentials Spur cells, or acanthocytes (from the Greek word acantha, "thorn"), are erythrocytes covered with spikelike projections that vary in width, length, and distribution [1] (see image below). They are characterized by diminished de...

Current Diagnosis and Management of Abetalipoproteinemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560840
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...

Retinitis Pigmentosa
http://emedicine.medscape.com/article/1227488-overview

Mar 18th, 2021 - Practice Essentials Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. Gross pathology of an eye in a man...

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News  1 results

The Emerging Epidemic of Nonalcoholic Fatty Liver Disease
https://www.medscape.com/viewarticle/735888_1

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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