Literature DB >> 156813

Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism.

A C Sewell, J Gehler, J Spranger.   

Abstract

A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.

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Year:  1979        PMID： 156813     DOI： 10.1007/bf01491137

Source DB:  PubMed          Journal:  Klin Wochenschr        ISSN： 0023-2173


  16 in total

1.  A modified uronic acid carbazole reaction.

Authors:  T BITTER; H M MUIR
Journal:  Anal Biochem       Date:  1962-10       Impact factor: 3.365

2.  A paper spot test useful in study of Hurler's syndrome.

Authors:  H K BERRY; J SPINANGER
Journal:  J Lab Clin Med       Date:  1960-01

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.  Fractionation and characterization of acidic ogligosaccharides and glycopeptides from normal and pathological urines.

Authors:  G Grecker
Journal:  J Chromatogr       Date:  1977-11-01

5.  The measurement of urinary mucopolysaccharides.

Authors:  N M Di Ferrante
Journal:  Anal Biochem       Date:  1967-10       Impact factor: 3.365

6.  Biochemical definition of the mucopolysaccharidoses.

Authors:  J W Spranger
Journal:  Z Kinderheilkd       Date:  1970

7.  Biochemical screening for mucopolysaccharidosis, mucolipidosis and oligosaccharidosis.

Authors:  R Humbel
Journal:  Helv Paediatr Acta       Date:  1975-07

8.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

9.  Prenatal diagnosis of mucolipidosis II (I-cell disease).

Authors:  J Gehler; M Cantz; M Stoeckenius; J Spranger
Journal:  Eur J Pediatr       Date:  1976-06-08       Impact factor: 3.183

10.  Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis.

Authors:  S Okada; T Kato; S Miura; H Yabuuchi; M Nishigaki; A Kobata; H Chiyo; J I Furuyama
Journal:  Clin Chim Acta       Date:  1978-06       Impact factor: 3.786
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  5 in total

1.  Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.

Authors:  A C Sewell
Journal:  Klin Wochenschr       Date:  1988-01-15

Review 2.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

3.  Clinical heterogeneity in infantile galactosialidosis.

Authors:  A C Sewell; B F Pontz; D Weitzel; C Humburg
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

4.  Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Authors:  J Gehler; A C Sewell; C Becker; J Spranger; J Hartmann
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

5.  Urinary oligosaccharide excretion in disorders of glycolipid, glycoprotein and glycogen metabolism. A review of screening for differential diagnosis.

Authors:  A C Sewell
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183
  5 in total

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