Literature DB >> 96839

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

D A Wenger, T J Tarby, C Wharton.   

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Year:  1978        PMID: 96839     DOI: 10.1016/0006-291x(78)90915-4

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


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  41 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Sialidosis: a review of human neuraminidase deficiency.

Authors:  J A Lowden; J S O'Brien
Journal:  Am J Hum Genet       Date:  1979-01       Impact factor: 11.025

3.  Ovine GM-1 gangliosidosis.

Authors:  D J Prieur; A J Ahern-Rindell; R D Murnane
Journal:  Am J Pathol       Date:  1991-12       Impact factor: 4.307

4.  Structure of the lysosomal neuraminidase-beta-galactosidase-carboxypeptidase multienzymic complex.

Authors:  M Potier; L Michaud; J Tranchemontagne; L Thauvette
Journal:  Biochem J       Date:  1990-04-01       Impact factor: 3.857

5.  Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.

Authors:  G M Mancini; A T Hoogeveen; H Galjaard; J E Mansson; L Svennerholm
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

6.  Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes.

Authors:  S Palmeri; A T Hoogeveen; F W Verheijen; H Galjaard
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

7.  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

8.  Specificity studies on the oligosaccharide neuraminidase of human fibroblasts.

Authors:  K Mendla; M Cantz
Journal:  Biochem J       Date:  1984-03-01       Impact factor: 3.857

9.  Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical study.

Authors:  M King; F Cockburn; G B MacPhee; R W Logan
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

Review 10.  New names for old disciplines.

Authors:  H Galjaard
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

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