Update on the molecular biology of dyslipidemias

I Ramasamy - Clinica chimica acta, 2016 - Elsevier
Dyslipidemia is a commonly encountered clinical condition and is an important determinant
of cardiovascular disease. Although secondary factors play a role in clinical expression …

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

M Di Filippo, P Moulin, P Roy, ME Samson-Bouma… - Journal of …, 2014 - Elsevier
Background & Aims Non-alcoholic steatohepatitis leading to fibrosis occurs in patients with
abetalipoproteinemia (ABL) and homozygous or compound heterozygous familial …

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

M Di Filippo, H Créhalet, ME Samson-Bouma… - Journal of lipid …, 2012 - ASBMB
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly
and secretion of apolipoprotein B–containing lipoproteins caused by mutations in the …

[PDF][PDF] Causes of chronic non-infectious diarrhoea in infants less than 6 months of age: rarely recognized entities

I Mushtaq, HA Cheema, HS Malik… - J Ayub Med Coll …, 2017 - academia.edu
Background: Non-infectious causes of chronic diarrhoea are important and easily missed.
The study was done with the objectives to identify different causes of chronic non-infectious …

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

M Di Filippo, SC Frachon, A Janin, S Rajan… - Atherosclerosis, 2019 - Elsevier
Background and aims Abetalipoproteinemia (ABL) is a rare recessive monogenic disease
due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of …

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up

M Gündüz, E Özaydın, MB Atar, N Koç… - Indian Journal of …, 2016 - Springer
Abstract Abetalipoproteinemia (ABL; OMIM 200100) is a rare autosomal recessive disease
that affects the absorption of dietary fats and fat soluble vitamins. Here, we describe the …

Intractable diarrhea of infancy: 10 years of experience

H Hizarcioglu-Gulsen, IN Saltik-Temizel… - Journal of Pediatric …, 2014 - journals.lww.com
Objectives: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is
difficult to diagnose and manage. We documented general features of patients and the …

Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families

M Di Filippo, M Varret, V Boehm, JP Rabès… - Journal of clinical …, 2019 - Elsevier
Background Abetalipoproteinemia, a recessive disease resulting from deleterious variants in
MTTP (microsomal triglyceride transfer protein), is characterized by undetectable …

A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported …

PG Rodríguez Gutiérrez… - Journal of Clinical …, 2021 - Wiley Online Library
Background Our aims were to describe the first Mexican patient with abetalipoproteinemia
and to perform a comparative analysis of biochemical, clinical, and genetic characteristics of …

[HTML][HTML] A male infant with abetalipoproteinemia: A case report from Iran

P Rashtian, MN Sani, R Jalilian - Middle East Journal of Digestive …, 2015 - ncbi.nlm.nih.gov
Abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder caused by
mutations in the microsomal triglyceride transfer protein gene (MTTP). ABL is characterized …