Current Diagnosis and Management of Abetalipoproteinemia

Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology

(2020) Hayato Tada et al.   Journal of Atherosclerosis and Thrombosis

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 cases

(2020) Perla Graciela Rodríguez Gutiérrez et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy

(2019) Arif O. Khan et al.   JOURNAL OF AAPOS

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

(2019) Mathilde Di Filippo et al.   ATHEROSCLEROSIS

Two infants with abetalipoproteinemia: Classic versus atypical presentation

(2019) Noparat Prachasitthisak et al.   PEDIATRICS INTERNATIONAL

The crystal structure of human microsomal triglyceride transfer protein

(2019) Ekaterina I. Biterova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abetalipoproteinemia From Previously Unreported Gene Mutations

(2018) Xavier-Philippe Aers et al.   ANNALS OF INTERNAL MEDICINE

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

(2018) Mathilde Di Filippo et al.   Journal of Clinical Lipidology

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects

(2016) Meghan T. Walsh et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Discovery of Novel Splice Variants and Regulatory Mechanisms for Microsomal Triglyceride Transfer Protein in Human Tissues

(2016) Takashi Suzuki et al.   Scientific Reports

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein FunctionCLINICAL PERSPECTIVE

(2015) Meghan T. Walsh et al.   Circulation-Cardiovascular Genetics

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein FunctionCLINICAL PERSPECTIVE

(2015) Meghan T. Walsh et al.   Circulation-Cardiovascular Genetics

Novel missense MTTP gene mutations causing abetalipoproteinemia

(2014) Sharon A. Miller et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Clinical utility gene card for: Abetalipoproteinaemia – Update 2014

(2014) John R Burnett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) – Update 2014

(2014) John R Burnett et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Mathilde Di Filippo et al.   JOURNAL OF HEPATOLOGY

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene

(2013) Mohamed Najah et al.   Diagnostic Pathology

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia

(2013) Monia Benhamed Hammer et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management

(2013) Jooho Lee et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia

(2012) Lucia Magnolo et al.   GENE

Molecular and functional analysis of two newMTTPgene mutations in an atypical case of abetalipoproteinemia

(2012) Mathilde Di Filippo et al.   JOURNAL OF LIPID RESEARCH

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

(2011) A Aminoff et al.   CLINICAL GENETICS

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)

(2011) Véronique Pons et al.   HUMAN MUTATION

Gene therapy for dyslipidemia: a review of gene replacement and gene inhibition strategies

(2010) Sadik H Kassim et al.   Clinical Lipidology

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

(2010) Sebastian Zeissig et al.   JOURNAL OF CLINICAL INVESTIGATION

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

(2010) Noel Peretti et al.   Orphanet Journal of Rare Diseases

Abetalipoproteinemia: two case reports and literature review

(2008) Rola Zamel et al.   Orphanet Journal of Rare Diseases