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Mucopolysaccharidoses type II: Enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients
Arch. med. res ; 28(1): 91-4, mar. 1997. tab, ilus
Article in English | LILACS | ID: lil-225202
ABSTRACT
Five patients presenting Hunter's syndrome were biochemically studied. Quantification of urinary glycosaminoglycans (GAGs), electrophoretic characterizatio and correlation with ensymatic activity in leucocytes were carried out. In all cases, urinary GAGs/creatinine ratio was increased. Electrophoresis revealed the presence of heparan sulfate (HS) and dermatan sulfate (DS) in four cases (80 perecent), but in the remaining patient, only DS was present. In all patients, deficient enzymatic activity was demonstrated. These results show evidences of biochemical differences in thys syndrome
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Index: LILACS (Americas) Main subject: Sulfatases / Mucopolysaccharidosis II / Glycosaminoglycans / Leukocytes Type of study: Qualitative research Limits: Child / Child, preschool / Humans / Male Language: English Journal: Arch. med. res Journal subject: Medicine Year: 1997 Type: Article

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Index: LILACS (Americas) Main subject: Sulfatases / Mucopolysaccharidosis II / Glycosaminoglycans / Leukocytes Type of study: Qualitative research Limits: Child / Child, preschool / Humans / Male Language: English Journal: Arch. med. res Journal subject: Medicine Year: 1997 Type: Article