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Keratan sulphate excretion in a patient with Kniest dysplasia
Author(s) -
Pennock C. A.,
Gordon I. R. S.,
Longdon K.,
Burman D.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801723
Subject(s) - human genetics , medicine , metabolic disease , excretion , endocrinology , chemistry , biochemistry , gene
Abstract The clinical and radiological features of a patient with Kniest dysplasia, a form of metatropic dwarfism, are described. The patient excreted glycosaminoglycans (mucopolysaccharides) in normal amounts during infancy but subsequently showed abnormal keratan sulphate excretion. The significance of these findings and the possibility that Kniest dysplasia represents another mucopolysaccharidosis are discussed.