کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833937 | 1065836 | 2011 | 11 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
New frontiers in neuroimaging applications to inborn errors of metabolism
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
Most inborn errors of metabolism (IEMs) are associated with potential for injury to the developing central nervous system resulting in chronic encephalopathy, though the etiopathophysiology of neurological injury have not been fully established in many disorders. Shared mechanisms can be envisioned such as oxidative injury due to over-activation of N-Methyl-d-Aspartate (NMDA) receptors with subsequent glutamatergic damage, but other causes such as energy depletion or inflammation are possible. Neuroimaging has emerged as a powerful clinical and research tool for studying the brain in a noninvasive manner. Several platforms exist to study neural networks underlying cognitive processes, white matter/myelin microstructure, and cerebral metabolism in vivo. The scope and limitations of these methods will be discussed in the context of valuable information they provide in the study and management of selected inborn errors of metabolism. This review is not meant to be an exhaustive coverage of diagnostic findings on MRI in multiple IEMs, but rather to illustrate how neuroimaging modalities beyond T1 and T2 images, can add depth to an understanding of the underlying brain changes evoked by the selected IEMs. Emphasis will be placed on techniques that are available in the clinical setting. Though technically complex, many of these modalities have moved - or soon will - to the clinical arena.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 195-205
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 195-205
نویسندگان
Morgan J. Prust, Andrea L. Gropman, Natalie Hauser,