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.

Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up / Gündüz, M; Özaydın, E; Atar, Mb; Koç, N; Kırsaçlıoğlu, C; Köse, G; Cefalù, Ab; Averna, M; Tarugi, Patrizia Maria. - In: INDIAN JOURNAL OF GASTROENTEROLOGY. - ISSN 0254-8860. - STAMPA. - 35:3(2016), pp. 236-241. [10.1007/s12664-016-0654-z]

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

TARUGI, Patrizia Maria
2016

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.
2016
10-mag-2016
35
3
236
241
Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up / Gündüz, M; Özaydın, E; Atar, Mb; Koç, N; Kırsaçlıoğlu, C; Köse, G; Cefalù, Ab; Averna, M; Tarugi, Patrizia Maria. - In: INDIAN JOURNAL OF GASTROENTEROLOGY. - ISSN 0254-8860. - STAMPA. - 35:3(2016), pp. 236-241. [10.1007/s12664-016-0654-z]
Gündüz, M; Özaydın, E; Atar, Mb; Koç, N; Kırsaçlıoğlu, C; Köse, G; Cefalù, Ab; Averna, M; Tarugi, Patrizia Maria...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1126208
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