Literature DB >> 7981572

Carbohydrate-deficient glycoprotein syndrome with previously unreported features.

F Eyskens1, C Ceuterick, J J Martin, G Janssens, J Jaeken.   

Abstract

A boy with carbohydrate-deficient glycoprotein syndrome died at five months of age in status epilepticus. Postmortem examination failed to show the classically observed olivopontocerebellar atrophy. Two previously unreported features were present: cataracts from the first week of life and lysosomal storage affecting mainly the anterior horn neurons of the spinal cord.

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Year:  1994        PMID： 7981572     DOI： 10.1111/j.1651-2227.1994.tb13166.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0803-5253            Impact factor:   2.299


  8 in total

1.  Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.

Authors:  D Skladal; W Sperl; H Henry; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  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

3.  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

4.  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

Review 5.  Carbohydrate-deficient glycoprotein syndromes.

Authors:  N Gordon
Journal:  Postgrad Med J       Date:  2000-03       Impact factor: 2.401

6.  A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

Authors:  P de Lonlay; N Seta; S Barrot; B Chabrol; V Drouin; B M Gabriel; H Journel; M Kretz; J Laurent; M Le Merrer; A Leroy; D Pedespan; P Sarda; N Villeneuve; J Schmitz; E van Schaftingen; G Matthijs; J Jaeken; C Korner; A Munnich; J M Saudubray; V Cormier-Daire
Journal:  J Med Genet       Date:  2001-01       Impact factor: 6.318

7.  A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Authors:  G J Gerwig; E Bause; L K Nuytinck; J F Vliegenthart; W Breuer; J P Kamerling; M F Espeel; J J Martin; N W Chan; G A Dacremont
Journal:  Am J Hum Genet       Date:  2000-04-28       Impact factor: 11.025

8.  Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

Authors:  J Jaeken
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  8 in total

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