Literature DB >> 7758727

The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation.

B Winchester1, P Clayton, N Mian, E di-Tomaso, A Dell, A Reason, G Keir.   

Abstract

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Year:  1995        PMID： 7758727     DOI： 10.1042/bst0230185

Source DB:  PubMed          Journal:  Biochem Soc Trans        ISSN： 0300-5127            Impact factor:   5.407


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  5 in total

1.  Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Authors:  R Barone; H Carchon; E Jansen; L Pavone; A Fiumara; N U Bosshard; R Gitzelmann; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

2.  Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Authors:  V Westphal; S Murch; S Kim; G Srikrishna; B Winchester; R Day; H H Freeze
Journal:  Am J Pathol       Date:  2000-12       Impact factor: 4.307

3.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

Authors:  F Imtiaz; V Worthington; M Champion; C Beesley; J Charlwood; P Clayton; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  2000-03       Impact factor: 4.982

4.  Contribution of sialic acid to the voltage dependence of sodium channel gating. A possible electrostatic mechanism.

Authors:  E Bennett; M S Urcan; S S Tinkle; A G Koszowski; S R Levinson
Journal:  J Gen Physiol       Date:  1997-03       Impact factor: 4.086

5.  A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity.

Authors:  J Charlwood; P Clayton; A Johnson; G Keir; N Mian; B Winchester
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982
  5 in total

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