Literature DB >> 6458738

Keratan sulphate excretion in a patient with Kniest dysplasia.

C A Pennock, I R Gordon, K Longdon, D Burman.   

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 represent another mucopolysaccharidosis are discussed.

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Year:  1980        PMID： 6458738     DOI： 10.1007/bf01801723

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  8 in total

1.  Kniest syndrome with dominant inheritance and mucopolysacchariduria.

Authors:  H J Kim; N G Beratis; P Brill; E Raab; K Hirschhorn; R Matalon
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025

2.  Abnormal keratan sulphate excretion.

Authors:  K Longdon; C A Pennock
Journal:  Ann Clin Biochem       Date:  1979-05       Impact factor: 2.057

3.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors:  C A Pennock
Journal:  J Clin Pathol       Date:  1976-02       Impact factor: 3.411

4.  Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease.

Authors:  V PEDRINI; L LENNZI; V ZAMBOTTI
Journal:  Proc Soc Exp Biol Med       Date:  1962 Aug-Sep

5.  Spondyloepiphyseal dysplasia congenita.

Authors:  J W Spranger; L O Langer
Journal:  Radiology       Date:  1970-02       Impact factor: 11.105

6.  Morquio's syndrome: deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase.

Authors:  R Matalon; B Arbogast; P Justice; I K Brandt; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1974-11-27       Impact factor: 3.575

7.  The Kniest syndrome.

Authors:  C D Siggers; D L Rimoin; J P Dorst; S B Doty; B R Williams; D W Hollister; R Silberberg; R E Cranley; R L Kaufman; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1974

8.  Gel electrophoretic studies on proteoglycans and collagen of abnormal human growth cartilage: proteoglycan abnormalities in pseudoachondroplasia and in Kniest's disease.

Authors:  V Stanescu; P Maroteaux
Journal:  Pediatr Res       Date:  1975-10       Impact factor: 3.756
  8 in total

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