کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
946039 | 926172 | 2006 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The Congenital Disorders of Glycosylation: A Multifaceted Group of Syndromes
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
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![عکس صفحه اول مقاله: The Congenital Disorders of Glycosylation: A Multifaceted Group of Syndromes The Congenital Disorders of Glycosylation: A Multifaceted Group of Syndromes](/preview/png/946039.png)
چکیده انگلیسی
The congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic syndromes with a wide symptomatology and severity. They all stem from deficient N-glycosylation of proteins. To date the group contains 18 different subtypes: 12 of Type I (disrupted synthesis of the lipid-linked oligosaccharide precursor) and 6 of Type II (malfunctioning trimming/processing of the protein-bound oligosaccharide). Main features of CDG involve psychomotor retardation; ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features, including inverted nipples and subcutaneous fat pads; and strabismus. No treatment currently is available for the vast majority of these syndromes (CDG-Ib and CDG-IIc are exceptions), even though attempts to synthesize drugs for the most common subtype, CDG-Ia, have been made. In this review we will discuss the individual syndromes, with focus on their neuronal involvement, available and possible treatments, and future directions.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: NeuroRX - Volume 3, Issue 2, April 2006, Pages 254-263
Journal: NeuroRX - Volume 3, Issue 2, April 2006, Pages 254-263
نویسندگان
Erik A. Eklund, Hudson H. Freeze,