Literature DB >> 7389740

Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.

A C Sewell, J Gehler, J Spranger.   

Abstract

Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with beta-galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterizing various forms of beta-galactosidase deficiency.

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Year:  1980        PMID： 7389740     DOI： 10.1007/bf00496087

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  13 in total

1.  Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography.

Authors:  R Humbel; M Collart
Journal:  Clin Chim Acta       Date:  1975-04-16       Impact factor: 3.786

2.  Letter: Beta-galactosidase deficiency in young adults.

Authors:  D A Wenger; S I Goodman; G G Myers
Journal:  Lancet       Date:  1974-11-30       Impact factor: 79.321

3.  A new type of mucolipidosis with -galactosidase deficiency and glycopeptiduria.

Authors:  T Orii; R Minami; K Sukegawa; S Sato; S Tsugawa
Journal:  Tohoku J Exp Med       Date:  1972-08       Impact factor: 1.848

4.  Improved thin-layer chromatographic method in the diagnosis of mannosidosis.

Authors:  R B Friedman; M A Williams; H W Moser; E H Kolodny
Journal:  Clin Chem       Date:  1978-09       Impact factor: 8.327

5.  Letter: Angiokeratoma corporis diffusum and lysosomal enzyme deficiency.

Authors:  M C Loonen; L Lugt; C L Franke
Journal:  Lancet       Date:  1974-09-28       Impact factor: 79.321

6.  Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency. Clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.

Authors:  M F Goldberg; E Cotlier; L G Fichenscher; K Kenyon; R Enat; S A Borowsky
Journal:  Arch Intern Med       Date:  1971-09

7.  Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.

Authors:  J S O'Brien; E Gugler; A Giedion; U Wiessmann; N Herschkowitz; C Meier; J Leroy
Journal:  Clin Genet       Date:  1976-05       Impact factor: 4.438

8.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

9.  Localized beta-galactosidase deficiency. Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry-red spot--a new variant of GM1-gangliosidosis?

Authors:  A Yamamoto; S Adachi; S Kawamura; M Takahashi; T Kitani
Journal:  Arch Intern Med       Date:  1974-10

10.  Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.

Authors:  A I Arbisser; K A Donnelly; C I Scott; N DiFerrante; J Singh; R E Stevenson; A S Aylesworth; R R Howell
Journal:  Am J Med Genet       Date:  1977
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  2 in total

1.  The simple detection of neuraminic acid-containing urinary oligosaccharides in patients with glycoprotein storage diseases.

Authors:  A C Sewell
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

2.  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
  2 in total

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