Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins-Reference-Cited by-同舟云学术

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

Published:1997-07 Issue:3 Volume:20 Page:447-449
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Jaeken J.¹,Artigas J.²,Barone R.³,Fiumara A.³,de Koning T. J.⁴,Poll-The B. T.⁴,de Rijk-van Andel J. F.⁵,Hoffmann G. F.⁶,Assmann B.⁶,Mayatepek E.⁷,Pineda M.⁸,Vilaseca M. A.⁸,Saudubray J. M.⁹,Schlüter B.¹⁰,Wevers R.¹¹,Van Schaftingen E.¹²

Affiliation:

1. ; Department of Pediatrics; University of Leuven; Belgium

2. Department of Pediatrics; Parc Taulí Hospitals; Sabadell Spain

3. ; Department of Pediatrics; University of Catania; Italy

4. ; Wilhelmina Children's Hospital; Utrecht The Netherlands

5. ; Department of Neurology; Ignatius Hospital Breda; The Netherlands

6. ; University Children's Hospital; Marburg Germany

7. ; Department of Pediatrics; University of Heidelberg; Germany

8. ; University Hospital Sant Joan de Déu; Barcelona Spain

9. ; Department of Pediatrics; Hôpital des Enfants Malades; Paris France

10. Vestische Kinderklinik; Datteln Germany

11. ; Institutes of Neurology, Pediatrics and Radiology; University Hospital Nijmegen; The Netherlands

12. Laboratory of Physiological Chemistry; ICP and University of Louvain; Belgium

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005331523477/fullpdf

Reference14 articles.

1. Carbohydrate deficient glycoprotein syndrome type 5?;Charlwood;J Inher Metab Dis,1996

2. Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome;Clayton;J Inher Metab Dis,1992

3. Pasgeborenen met fatty pads die onvoldoende groeien en braken: het syndroom van Jaeken?;Bont;Tijdschr Kindergeneeskd,1994

4. Carbohydrate-deficient glycoprotein syndrome with previously unreported features;Eyskens;Acta Paediatr,1994

5. Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I;Jaeken;J Inher Metab Dis,1996

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