Literature DB >> 10604147

Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.

D M Neele1, C M Kneepkens, N M Verhoeven, C Jakobs.   

Abstract

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Year:  1999        PMID： 10604147     DOI： 10.1023/a:1005699725822

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

Review 1.  Disorders in protein glycosylation and potential therapy: tip of an iceberg?

Authors:  H H Freeze
Journal:  J Pediatr       Date:  1998-11       Impact factor: 4.406

2.  A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

Authors:  T J de Koning; L Dorland; O P van Diggelen; A M Boonman; G J de Jong; W L van Noort; J De Schryver; M Duran; I E van den Berg; G J Gerwig; R Berger; B T Poll-The
Journal:  Biochem Biophys Res Commun       Date:  1998-04-07       Impact factor: 3.575

3.  Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Authors:  R Niehues; M Hasilik; G Alton; C Körner; M Schiebe-Sukumar; H G Koch; K P Zimmer; R Wu; E Harms; K Reiter; K von Figura; H H Freeze; H K Harms; T Marquardt
Journal:  J Clin Invest       Date:  1998-04-01       Impact factor: 14.808
  3 in total

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