Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

doi:10.1136/jmg.28.7.499

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Article

Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

Journal of medical genetics - 1 Jul 1991

Tønnesen T, Gregersen H N, Güttler F

Abstract excerpt

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.

Topics

Adult
Cells, Cultured
Cetylpyridinium
Chondro-4-Sulfatase
Dermatan Sulfate
Diagnostic Errors
Fibroblasts
Glycosaminoglycans
Hip Dislocation
Humans
Kyphosis
Lysosomes
Male
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Phenotype
Uronic Acids

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