Literature DB >> 1201084

Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).

G D Vladutiu, M C Rattazzi.   

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Year:  1975        PMID： 1201084     DOI： 10.1016/0006-291x(75)90768-8

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


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  27 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

Review 2.  The early and late processing of lysosomal enzymes: proteolysis and compartmentation.

Authors:  A Hasilik
Journal:  Experientia       Date:  1992-02-15

3.  Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.

Authors:  J A Lowden
Journal:  Am J Hum Genet       Date:  1979-05       Impact factor: 11.025

4.  Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts.

Authors:  G D Vladutiu; M C Rattazzi
Journal:  J Clin Invest       Date:  1979-04       Impact factor: 14.808

5.  Accumulation of coated vesicles bearing mannose 6-phosphate receptors for lysosomal enzymes in the Golgi region of I-cell fibroblasts.

Authors:  W J Brown; M G Farquhar
Journal:  Proc Natl Acad Sci U S A       Date:  1984-08       Impact factor: 11.205

6.  A variant of mucolipidosis. II. Clinical, biochemical and pathological investigations.

Authors:  L Poenaru; L Castelnau; F Tome; J Boue; P Maroteaux
Journal:  Eur J Pediatr       Date:  1988-04       Impact factor: 3.183

7.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

8.  Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).

Authors:  A F Van Elsen; J G Leroy
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

9.  The effect of chloroquine on the distribution of newly synthesized and old beta-hexosaminidase in fibroblasts.

Authors:  G D Vladutiu
Journal:  Biochem J       Date:  1982-12-15       Impact factor: 3.857

10.  Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases.

Authors:  G V Coppa; P L Giorgi; L Felici; O Gabrielli; E Donti; S Bernasconi; H Kresse; E Paschke; C Mastropaolo
Journal:  Eur J Pediatr       Date:  1983-04       Impact factor: 3.183
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