Literature DB >> 836321

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

M Cantz, J Gehler, J Spranger.   

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Year:  1977        PMID： 836321     DOI： 10.1016/0006-291x(77)90363-1

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


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  34 in total

1.  Progressive myoclonus epilepsy. A variant with probable X-linked inheritance.

Authors:  T F Wienker; G M von Reutern; H H Ropers
Journal:  Hum Genet       Date:  1979-05-23       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.  Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Authors:  K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

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.  Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient with type II sialidosis.

Authors:  J R Scocca; G H Thomas; C Miller; L Reynolds
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  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

7.  A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies.

Authors:  P V Nelson; W F Carey
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

8.  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

9.  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

10.  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
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