کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9203338 1190348 2005 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Metabolic Mimics: The Disorders of N-Linked Glycosylation
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Metabolic Mimics: The Disorders of N-Linked Glycosylation
چکیده انگلیسی
N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 12, Issue 3, September 2005, Pages 144-151
نویسندگان
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