Literature DB >> 603649

Neuraminidase deficiency in the cherry red spot-myoclonus syndrome.

J S O'Brien.   

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Year:  1977        PMID： 603649     DOI： 10.1016/0006-291x(77)91124-x

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


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  16 in total

Review 1.  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

2.  Hepatic storage of oligosaccharides and glycolipids in a cat affected with GM1 gangliosidosis.

Authors:  E W Holmes; J S O'Brien
Journal:  Biochem J       Date:  1978-12-01       Impact factor: 3.857

3.  Deficiency of methylumbelliferyl-alpha-Neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III.

Authors:  W R Den Tandt; J G Leroy; M Potier
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

4.  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

5.  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

6.  Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

Authors:  T Yamano; M Shimada; K Matsuzaki; Y Matsumoto; W Yoshihara; S Okada; K Inui; T Yutaka; H Yabuuchi
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

7.  The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Authors:  L Haataja; J Schleutker; A P Laine; M Renlund; M L Savontaus; C Dib; J Weissenbach; L Peltonen; P Aula
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

8.  Nephrosialidosis: ultrastructural and lectin histochemical study.

Authors:  K Toyooka; H Fujimura; H Yoshikawa; M Taniike; K Inui; S Yorifuji; S Tarui; S Okada; T Yanagihara
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

9.  Deficiency of neuraminidase in the sialidoses and the mucolipidoses.

Authors:  W R Den Tandt; J G Leroy
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

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

Authors:  I Maire; A R Nivelon-Chevallier
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
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