Literature DB >> 6796775

Combined deficiency of beta-galactosidase and neuraminidase: three affected siblings in a French family.

I Maire, A R Nivelon-Chevallier.   

Abstract

Three affected siblings from France have been described with a combined deficiency of beta-galactosidase and neuraminidase. Oligosaccharides were found in urine and the enzyme activities determined in leukocytes and cultured fibroblasts. Further characterization of the defect in this family is needed.

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Year:  1981        PMID： 6796775     DOI： 10.1007/BF02263656

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


  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.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies.

Authors:  D A Wenger; T J Tarby; C Wharton
Journal:  Biochem Biophys Res Commun       Date:  1978-05-30       Impact factor: 3.575

4.  Adult type neuronal storage disease with neuraminidase deficiency.

Authors:  T Miyatake; T Atsumi; T Obayashi; Y Mizuno; S Ando; T Ariga; K Matsui-Nakamura; T Yamada
Journal:  Ann Neurol       Date:  1979-09       Impact factor: 10.422

5.  Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.

Authors:  M Cantz; J Gehler; J Spranger
Journal:  Biochem Biophys Res Commun       Date:  1977-01-24       Impact factor: 3.575

6.  Prenatal diagnosis of sialidosis with combined neuraminidase and beta-galactosidase deficiency.

Authors:  W J Kleijer; A Hoogeveen; F W Verheijen; M F Niermeijer; H Galjaard; J S O'Brien; T G Warner
Journal:  Clin Genet       Date:  1979-07       Impact factor: 4.438

7.  Neuraminidase deficiency in the cherry red spot-myoclonus syndrome.

Authors:  J S O'Brien
Journal:  Biochem Biophys Res Commun       Date:  1977-12-21       Impact factor: 3.575

8.  Optimal conditions for the assay of fibroblast neuraminidase with different natural substrates.

Authors:  L Caimi; A Lombardo; A Preti; U Wiesmann; G Tettamanti
Journal:  Biochim Biophys Acta       Date:  1979-11-09

9.  Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.

Authors:  M Kuriyama; S Okada; Y Tanaka; H Umezaki
Journal:  J Neurol Sci       Date:  1980-05       Impact factor: 3.181

10.  Neuraminidase deficiency in the original patient with the Goldberg syndrome.

Authors:  G H Thomas; M F Goldberg; C S Miller; L W Reynolds
Journal:  Clin Genet       Date:  1979-11       Impact factor: 4.438
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  3 in total

1.  Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.

Authors:  O T Mueller; W M Henry; L L Haley; M G Byers; R L Eddy; T B Shows
Journal:  Proc Natl Acad Sci U S A       Date:  1986-03       Impact factor: 11.205

2.  Neuropathological findings of an autopsy case of adult beta-galactosidase and neuraminidase deficiency.

Authors:  N Amano; S Yokoi; M Akagi; M Sakai; S Yagishita; K Nakata
Journal:  Acta Neuropathol       Date:  1983       Impact factor: 17.088

3.  Biochemical study of sialidosis type I in a Russian family.

Authors:  I V Tsvetkova; N A Petushkova; T V Zolotuchina; V I Kucharenko; E L Rosenfeld
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982
  3 in total

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