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

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

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Microsomal triglyceride transf ...... tation and clinical follow up.

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Microsomal triglyceride transf ...... tation and clinical follow up.

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type

Item

label

Microsomal triglyceride transf ...... tation and clinical follow up.

@en

Microsomal triglyceride transf ...... tation and clinical follow up.

@nl

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Microsomal triglyceride transf ...... tation and clinical follow up.

@en

Microsomal triglyceride transf ...... tation and clinical follow up.

@nl

P1476

Microsomal triglyceride transf ...... tation and clinical follow up.

@en

P2093

Angelo Baldassare Cefalù

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Ceyda Kırsaçlıoğlu

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Eda Özaydın

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Gülşen Köse

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Maurizio Averna

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Mehmet Gündüz

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Müge Büyüktaşlı Atar

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Nevra Koç

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Patrizia Tarugi

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P2860

Abetalipoproteinemia: two case reports and literature review

Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function

Microsomal triglyceride transfer protein and its role in apoB-lipoprotein assembly

Oral vitamin E supplements can prevent the retinopathy of abetalipoproteinaemia.

Intestinal lipoprotein assembly.

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases.

P2888

s12664-016-0654-z

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236-241

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scholarly article

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10.1007/S12664-016-0654-Z

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P407

English

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P478

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2016-05-10T00:00:00Z

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P698

27160094

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P921

triglyceride