Abnormalities of glycosphingolipids in mucopolysaccharidosis type III B.
نویسندگان
چکیده
منابع مشابه
Echocardiographic abnormalities in type IV mucopolysaccharidosis.
Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio's syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio's syndrome with a median age of 12.5 years underwent echocardiographic assessment. Abnormalities were detected in six (60%) cases with mitral valve i...
متن کاملGlycosaminoglycans and mucopolysaccharidosis type III.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-...
متن کاملmucopolysaccharidosis type iii b (sanfilippob) in a dizygotic twin: a case report
the mucopolysaccharidoses are a clinically and genetically heterogenous group of lysosomal storage diseases caused by defects in different enzymes for mucopolysaccharid degradation (glycosaminoglycans). except for mucopolysaccharide storage disease type ii (hunter disease), all are transmitted through an autosomal recessive mode of inheritanceinheritance. clinical feature of these metabolic dis...
متن کاملAssessment of Sleep in Children with Mucopolysaccharidosis Type III
Sleep disturbances are prevalent in mucopolysaccharidosis Type III (MPS III), yet there is a lack of objective, ecologically valid evidence detailing sleep quantity, quality or circadian system. Eight children with MPS III and eight age-matched typically developing children wore an actigraph for 7-10 days/nights. Saliva samples were collected at three time-points on two separate days, to permit...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Lipid Research
سال: 1984
ISSN: 0022-2275
DOI: 10.1016/s0022-2275(20)37837-8