Literature DB >> 404409

Genetic heterogeneity within the chondroitinsulphaturias.

B S Danes, B K Rottell, L Eviatar, J Stolzenberg.   

Abstract

The approach, identification of clinical phenotype followed by lysosomal enzyme assays in cell culture, used in the classification of the genetic mucopolysaccharidoses I-VI has been applied to the chondroitinsulphaturias. There was evidence of heterogeneity in the first 9 patients reported.

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Year:  1977        PMID: 404409      PMCID: PMC1013523          DOI: 10.1136/jmg.14.2.103

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  14 in total

1.  Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.

Authors:  J Spranger; J Gehler; J F O'Brien; M Cantz
Journal:  Lancet       Date:  1974-11-02       Impact factor: 79.321

2.  Letter: Chondroitinsulphaturia with alpha-L-iduronidase deficiency.

Authors:  A Babarik; P F Benson; M F Dean; H Muir
Journal:  Lancet       Date:  1974-08-24       Impact factor: 79.321

3.  Mucopolysaccharides in urine during normal human development.

Authors:  C Douglas; J Nowak; B S Danes
Journal:  Pediatr Res       Date:  1973-08       Impact factor: 3.756

4.  Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.

Authors:  W S Sly; B A Quinton; W H McAlister; D L Rimoin
Journal:  J Pediatr       Date:  1973-02       Impact factor: 4.406

5.  Chondroitin 4- and 6-sulfaturia in Morquio-Ullrich's syndrome.

Authors:  J Onisawa; T Y Lee; N Nakamura; C Otsuki
Journal:  Biochem Med       Date:  1971-02

6.  Beta-glucuronidase deficiency mucopolysaccharidosis.

Authors:  W S Sly; F E Brot; J Glaser; P D Stahl; B A Quinton; D L Rimoin; W H McAlister
Journal:  Birth Defects Orig Artic Ser       Date:  1974

7.  Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.

Authors:  R N Schimke; W A Horton; C R King; N L Martin
Journal:  Birth Defects Orig Artic Ser       Date:  1974

8.  Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome.

Authors:  M Philippart; G I Sugarman
Journal:  Lancet       Date:  1969-10-18       Impact factor: 79.321

9.  Beta-glucuronidase deficiency (mucopolysaccharidosis type VII).

Authors:  A L Beaudet; N M Ferrante; G D Ferry; B L Nichols
Journal:  Birth Defects Orig Artic Ser       Date:  1974

10.  The Hurler syndrome: a study of cultured lymphoid cell lines.

Authors:  B S Danes; T H Hütteroth; H Cleve; A G Bearn
Journal:  J Exp Med       Date:  1972-09-01       Impact factor: 14.307

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