Heparitin Sulfate Mucopolysaccharidosis (Sanfilippo Disease): A Case Study with Ultrastructural, Biochemical, and Radiological Findings
نویسندگان
چکیده
منابع مشابه
The Diagnosis of Morquio Disease Correlating the Clinical, Radiological and Biochemical Findings: A Case Series
InTRoDuCTIon Mucopolysaccharidoses (MPS) are a group of inherited storage diseases which are caused due to the deficiency of lysosomal enzymes which are needed to degrade glycosaminoglycans (GAGs). GAGs are the polymers of a disaccharide unit which are composed generally of uronic acid and sulphated amino or N-acetylated monosacchrides. GAGs are linked to proteins to form proteoglycans, which a...
متن کاملThe First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a case of MPS IIIC that was confirmed by molecular genetic analysis. The patient was a 2-yr-old gi...
متن کاملCognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
BACKGROUND Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is th...
متن کاملA mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections reve...
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بطورکلی، کتاب های مقدسی همچون قران کریم را خوانندگان میتوان مطابق با پیش زمینه های مختلفی که درند درک کنند. محقق تلاش کرده نقش پیش زمینه اجتماعی-فرهنگی را روی ایدئولوژی های مترجمین زن و در نتیجه تاثیراتش را روی خواندن و ترجمه آیات قرآن کریم بررسی کند و ببیند که آیا تفاوت های واژگانی عمده ای میان این مترجمین وجود دارد یا نه. به این منظور، ترجمه 24 آیه از آیات قرآن کریم مورد بررسی مقایسه ای قرار ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1971
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197103000-00006