Literature DB >> 10896304

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.

C Knopf1, R Rod, J Jaeken, M Berant, E Van Schaftingen, J P Fryns, R Brill-Zamir, R Gershoni-Baruch, S Lischinsky, H Mandel.   

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Year:  2000        PMID： 10896304     DOI： 10.1023/a:1005612120886

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


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  12 in total

Review 1.  Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.

Authors:  J Jaeken; P Casaer
Journal:  Eur J Paediatr Neurol       Date:  1997       Impact factor: 3.140

2.  Genetic variants of alpha 1-antitrypsin and hemoglobin typed by isoelectric focusing in preselected narrow pH gradients with PhastSystem.

Authors:  J O Jeppsson; R Einarsson
Journal:  Clin Chem       Date:  1992-04       Impact factor: 8.327

3.  Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Authors:  J Jaeken; G Matthijs; J M Saudubray; C Dionisi-Vici; E Bertini; P de Lonlay; H Henri; H Carchon; E Schollen; E Van Schaftingen
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

4.  Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Authors:  J Jaeken; G Matthijs; R Barone; H Carchon
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

5.  Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

Authors:  H Stibler; B Westerberg; F Hanefeld; B Hagberg
Journal:  Neuropediatrics       Date:  1993-02       Impact factor: 1.947

Review 6.  The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

Authors:  J Jaeken; H Carchon; H Stibler
Journal:  Glycobiology       Date:  1993-10       Impact factor: 4.313

7.  Subtypes of transferrin C.

Authors:  H Stibler; G Beckman; C Silkström
Journal:  Hum Hered       Date:  1979       Impact factor: 0.444

8.  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

9.  Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Authors:  E Van Schaftingen; J Jaeken
Journal:  FEBS Lett       Date:  1995-12-27       Impact factor: 4.124

10.  Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.

Authors:  D Jenkins; K Martin; I D Young
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318
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