Literature DB >> 6543331

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome.

J Jaeken, H G van Eijk, C van der Heul, L Corbeel, R Eeckels, E Eggermont.   

Abstract

Identical twin-sisters with evidence of a demyelinating disease showed multiple serum glycoprotein abnormalities. The association of a low serum iron level and a normal blood haemoglobin suggested an abnormality of transferrin too. This was confirmed by finding a sialic acid-deficiency of this glycoprotein in serum as well as in cerebrospinal fluid.

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Year:  1984        PMID： 6543331     DOI： 10.1016/0009-8981(84)90059-7

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  59 in total

1.  5-thiomannosides block the biosynthesis of dolichol-linked oligosaccharides and mimic class I congenital disorders of glycosylation.

Authors:  Wesley F Zandberg; Ningguo Gao; Jayakanthan Kumarasamy; Mark A Lehrman; Nabil G Seidah; B Mario Pinto
Journal:  Chembiochem       Date:  2012-01-19       Impact factor: 3.164

2.  [Dysmorphia and psychomotor retardation].

Authors:  T Struffert; E M Feldmann; O Schofer; W Reith
Journal:  Radiologe       Date:  2005-03       Impact factor: 0.635

3.  Analysis of serum protein precipitated with antiserum by matrix-assisted laser desorption ionization/time-of-flight and electrospray ionization mass spectrometry as a clinical laboratory test.

Authors:  T Nakanishi; A Shimizu; N Okamoto; A Ingendoh; M Kanai
Journal:  J Am Soc Mass Spectrom       Date:  1995-09       Impact factor: 3.109

4.  The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).

Authors:  B Kristiansson; H Stibler; N Conradi; B O Eriksson; W Ryd
Journal:  J Inherit Metab Dis       Date:  1998-04       Impact factor: 4.982

5.  A new variant of the carbohydrate deficient glycoproteins syndrome.

Authors:  V T Ramaekers; H Stibler; J Kint; J Jaeken
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

Review 6.  Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

Authors:  Jaak Jaeken
Journal:  J Inherit Metab Dis       Date:  2011-03-08       Impact factor: 4.982

7.  A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Authors:  P Burda; L Borsig; J de Rijk-van Andel; R Wevers; J Jaeken; H Carchon; E G Berger; M Aebi
Journal:  J Clin Invest       Date:  1998-08-15       Impact factor: 14.808

8.  Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.

Authors:  S Akaboshi; K Ohno; K Takeshita
Journal:  Neuroradiology       Date:  1995-08       Impact factor: 2.804

9.  Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

Authors:  L D Powell; K Paneerselvam; R Vij; S Diaz; A Manzi; N Buist; H Freeze; A Varki
Journal:  J Clin Invest       Date:  1994-11       Impact factor: 14.808

10.  Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.

Authors:  H Stibler; G Blennow; B Kristiansson; H Lindehammer; B Hagberg
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-05       Impact factor: 10.154
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