Literature DB >> 8796001

[Protein glycosylation deficiency: clinical presentation].

H Ogier de Baulny1, F Poggi-Travert, M Besnard, J M Saudubray.   

Abstract

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Year:  1996        PMID： 8796001

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN： 0929-693X            Impact factor:   1.180


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  1 in total

1.  Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Authors:  J Jaeken; J Artigas; R Barone; A Fiumara; T J de Koning; B T Poll-The; J F de Rijk-van Andel; G F Hoffmann; B Assmann; E Mayatepek; M Pineda; M A Vilaseca; J M Saudubray; B Schlüter; R Wevers; E Van Schaftingen
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982
  1 in total

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