کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3885627 1249519 2008 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Aminoacidurias: Clinical and molecular aspects
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری‌های کلیوی
پیش نمایش صفحه اول مقاله
Aminoacidurias: Clinical and molecular aspects
چکیده انگلیسی

Inherited aminoacidurias are caused by defective amino-acid transport through renal (reabsorption) and in many cases also small intestinal epithelia (absorption). Recently, many of the genes causing this abnormal transport have been molecularly identified. In this review, we summarize the latest findings in the clinical and molecular aspects concerning the principal aminoacidurias, cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Signs, symptoms, diagnosis, treatment, causative or candidate genes, functional characterization of the encoded transporters, and animal models are discussed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Kidney International - Volume 73, Issue 8, 2 April 2008, Pages 918–925
نویسندگان
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