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Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.
Tønnesen, T; Gregersen, H N; Güttler, F.
Affiliation
  • Tønnesen T; John F Kennedy Institute, Glostrup, Denmark.
J Med Genet ; 28(7): 499-501, 1991 Jul.
Article in En | MEDLINE | ID: mdl-1832719
A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chondro-4-Sulfatase / Mucopolysaccharidosis VI / Dermatan Sulfate Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Humans / Male Language: En Journal: J Med Genet Year: 1991 Document type: Article Affiliation country: Denmark Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chondro-4-Sulfatase / Mucopolysaccharidosis VI / Dermatan Sulfate Type of study: Diagnostic_studies / Etiology_studies Limits: Adult / Humans / Male Language: En Journal: J Med Genet Year: 1991 Document type: Article Affiliation country: Denmark Country of publication: United kingdom