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About 195 results

ALLMedicine™ Abetalipoproteinemia Center

Research & Reviews  97 results

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intes...
https://doi.org/10.1097/MPG.0000000000003145
Journal of Pediatric Gastroenterology and Nutrition; Sissaoui S, Cochet M et. al.

Apr 14th, 2021 - Familial intestinal hypocholesterolemias such abetalipoproteinemia, hypobetaliproproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprot...

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 ...

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetali...
https://doi.org/10.1097/MPH.0000000000001831
Journal of Pediatric Hematology/oncology; Sivamurukan P, Boddu D et. al.

May 20th, 2020 - We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride tra...

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Guidelines  1 results

Guidelines for the diagnosis and management of chylomicron retention disease based on a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956717
Orphanet Journal of Rare Diseases; Peretti N, Sassolas A et. al.

Oct 5th, 2010 - Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as o...

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Clinicaltrials.gov  97 results

Lipids Responsible for Intestinal or Hepatic Disorder: When to Suspect a Familial Intes...
https://doi.org/10.1097/MPG.0000000000003145
Journal of Pediatric Gastroenterology and Nutrition; Sissaoui S, Cochet M et. al.

Apr 14th, 2021 - Familial intestinal hypocholesterolemias such abetalipoproteinemia, hypobetaliproproteinemia, and chylomicron retention disease, are rare genetic diseases that result in a defect in the synthesis or secretion of lipoproteins containing apolipoprot...

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 ...

An Unusual Presentation of Hemorrhagic Disease in an Infant: A Probable Case of Abetali...
https://doi.org/10.1097/MPH.0000000000001831
Journal of Pediatric Hematology/oncology; Sivamurukan P, Boddu D et. al.

May 20th, 2020 - We report a probable case of abetalipoproteinemia in an infant who presented with unusual symptoms of late-onset vitamin K deficiency. Abetalipoproteinemia is a rare autosomal recessive disease caused by mutation of the microsomal triglyceride tra...

see more →