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

Maurizio Averna; Angelo Baldassare Cefalu'; Eda Özaydın; Ceyda Kırsaçlıoğlu; Nevra Koç; Müge Büyüktaşlı Atar; Mehmet Gündüz; Gülşen Köse; Patrizia Tarugi; Mehmet Gündüz

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

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

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Risultato della ricerca: Article

3 Citazioni (Scopus)

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 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 five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.

Lingua originale	English
pagine (da-a)	236-241
Numero di pagine	6
Rivista	Indian Journal of Gastroenterology
Volume	35
Stato di pubblicazione	Published - 2016

All Science Journal Classification (ASJC) codes

Gastroenterology

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Averna, M., Cefalu', A. B., Özaydın, E., Kırsaçlıoğlu, C., Koç, N., Atar, M. B., Gündüz, M., Köse, G., Tarugi, P., & Gündüz, M. (2016). Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. Indian Journal of Gastroenterology, 35, 236-241.

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. / Averna, Maurizio ; Cefalu', Angelo Baldassare; Özaydın, Eda; Kırsaçlıoğlu, Ceyda; Koç, Nevra; Atar, Müge Büyüktaşlı; Gündüz, Mehmet; Köse, Gülşen; Tarugi, Patrizia; Gündüz, Mehmet.

In: Indian Journal of Gastroenterology, Vol. 35, 2016, pag. 236-241.

Risultato della ricerca: Article

Averna, Maurizio ; Cefalu', Angelo Baldassare ; Özaydın, Eda ; Kırsaçlıoğlu, Ceyda ; Koç, Nevra ; Atar, Müge Büyüktaşlı ; Gündüz, Mehmet ; Köse, Gülşen ; Tarugi, Patrizia ; Gündüz, Mehmet. / Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up. In: Indian Journal of Gastroenterology. 2016 ; Vol. 35. pagg. 236-241.

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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 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 five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.",

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AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Özaydın, Eda

AU - Kırsaçlıoğlu, Ceyda

AU - Koç, Nevra

AU - Atar, Müge Büyüktaşlı

AU - Gündüz, Mehmet

AU - Köse, Gülşen

AU - Tarugi, Patrizia

AU - Gündüz, Mehmet

PY - 2016

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N2 - 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 five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.

AB - 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 five in patient 1. Patient 3 was the carrier of a novel mutation (g.10886-10902delAAGgtaagtttgtgttg in intron 3 and c.506A>T exon 5) in microsomal triglyceride transfer protein (MTP) gene and had hepatic steatosis.

UR - http://hdl.handle.net/10447/183596

UR - http://www.springer.com/medicine/internal/journal/12664

M3 - Article

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SP - 236

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JO - Indian Journal of Gastroenterology

JF - Indian Journal of Gastroenterology

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