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Article

Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2014

Hammer Monia Benhamed, El Euch-Fayache Ghada, Nehdi Houda, Feki Moncef, Maamouri-Hicheri Wieme, Hentati Fayçal, Amouri Rim

Abstract excerpt

Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete absence of apolipoprotein B (apoB)-containing lipoproteins. Typically, patients present with failure to thrive, acanthocytosis, pigmented retinopathy and neurological features. It has been shown that ABL results from mutations in the gene encoding the microsomal...

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Source

Identifiers

PMID: 24139731
DOI: 10.1016/j.jocn.2013.04.016

Genes

MTTP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical features and molecular genetics of two Tunisian families with abetalipoproteinemia.PMID 24139731Read ↗

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

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

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

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Semantic proximity Read ↗

Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.Semantic proximity Read ↗

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

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