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

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 May 2016

Gündüz Mehmet, Özaydın Eda, Atar Müge Büyüktaşlı, Koç Nevra, Kırsaçlıoğlu Ceyda, Köse Gülşen, Cefalù Angelo Baldassare, Averna Maurizio, Tarugi Patrizia

Abstract excerpt

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 clinical and genetic characteristics of three patients with ABL. Two patients (patients 1 and 2) who were carriers of the c.398-399delAA mutation (previously known mutation) had developmental delay and hepatic steatosis developed at the age of...

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PMID: 27160094
DOI: 10.1007/s12664-016-0654-z

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

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