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

Jaeken, J. ; Artigas, J. ; Barone, R. ; Fiumara, A. ; De Koning, T. J. LU ; Poll-The, B. T. ; De Rijk-Van Andel, J. F. ; Hoffmann, G. F. LU ; Assmann, B. and Mayatepek, E. , et al. (1997) In Journal of Inherited Metabolic Disease 20(3). p.447-449
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publishing date
type
Contribution to journal
publication status
published
in
Journal of Inherited Metabolic Disease
volume
20
issue
3
pages
3 pages
publisher
Springer
external identifiers
  • pmid:9266378
  • scopus:8544228332
ISSN
0141-8955
DOI
10.1023/A:1005331523477
language
English
LU publication?
no
id
44923b94-c53b-475e-b867-25e3c66a0477
date added to LUP
2020-03-03 19:22:31
date last changed
2024-04-03 04:21:52
@article{44923b94-c53b-475e-b867-25e3c66a0477,
  author       = {{Jaeken, J. and Artigas, J. and Barone, R. and Fiumara, A. and De Koning, T. J. and Poll-The, B. T. and De Rijk-Van Andel, J. F. and Hoffmann, G. F. and Assmann, B. and Mayatepek, E. and Pineda, M. and Vilaseca, M. A. and Saudubray, J. M. and Schlüter, B. and Wevers, R. and Van Schaftingen, E.}},
  issn         = {{0141-8955}},
  language     = {{eng}},
  month        = {{09}},
  number       = {{3}},
  pages        = {{447--449}},
  publisher    = {{Springer}},
  series       = {{Journal of Inherited Metabolic Disease}},
  title        = {{Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins}},
  url          = {{http://dx.doi.org/10.1023/A:1005331523477}},
  doi          = {{10.1023/A:1005331523477}},
  volume       = {{20}},
  year         = {{1997}},
}