کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1905945 1534747 2006 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Diagnosis of the neuronal ceroid lipofuscinoses: An update
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
Diagnosis of the neuronal ceroid lipofuscinoses: An update
چکیده انگلیسی

For the majority of families affected by one of the neuronal ceroid lipofuscinoses (NCLs), a biochemical and/or genetic diagnosis can be achieved. In an individual case this information not only increases understanding of the condition but also may influence treatment choices and options. The presenting clinical features prompt initial investigation and also guide clinical care. The clinical labels “infantile NCL”, “late infantile NCL” and “juvenile NCL”, therefore remain useful in practice. In unusual or atypical cases ultra-structural analysis of white blood cells or other tissue samples enables planning and prioritisation of biochemical and genetic tests.This review describes current methods available to achieve clinical, pathological, biochemical and genetic diagnosis in children presenting with symptoms suggestive of one of the NCLs.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease - Volume 1762, Issue 10, October 2006, Pages 865–872
نویسندگان
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