Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2009

Najah Mohamed, Di Leo Enza, Awatef Jelassi, Magnolo Lucia, Imene Jgurim, Pinotti Elisa, Bahri Mahjoub, Barsaoui Sihem, Brini Ines, Fekih Moncef, Slimane Mohamed Naceur, Tarugi Patrizia

Abstract excerpt

BACKGROUND: Abetalipoproteinemia (ABL) and Homozygous Familial Hypobetalipoproteinemia (Ho-FHBL) are rare monogenic diseases characterised by very low plasma levels of cholesterol and triglyceride and the absence or a great reduction of apolipoprotein B (apoB)-containing lipoproteins. ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene. METHODS: We sequenced MTP and APOB...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over
Share to Apolipoproteins B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carrier Proteins

Share to Infant

Share to Introns

Share to Pedigree

Share to Tunisia

Source

Identifiers

PMID: 19056372
DOI: 10.1016/j.cca.2008.11.012

Genes

APOB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.PMID 19056372Read ↗

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.Semantic proximity Read ↗

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.Semantic proximity Read ↗

Novel mutations in abetalipoproteinaemia and homozygous familial hypobetalipoproteinaemia.Semantic proximity Read ↗

Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.Semantic proximity Read ↗

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Semantic proximity Read ↗

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.Semantic proximity Read ↗

Molecular diagnosis of hypobetalipoproteinemia: an ENID review.Semantic proximity Read ↗

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.Semantic proximity Read ↗

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.Semantic proximity Read ↗

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.Semantic proximity Read ↗

Hypobetalipoproteinemia with an apparently recessive inheritance due to a "de novo" mutation of apolipoprotein B.Semantic proximity Read ↗

Hypobetalipoproteinemia and abetalipoproteinemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.