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

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

doi:10.1023/A:1005331523477

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

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

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	447-449
Number of pages	3
Journal	Journal of Inherited Metabolic Disease
Volume	20
Issue number	3
DOIs	https://doi.org/10.1023/A:1005331523477
Publication status	Published - 1997 Sept 4
Externally published	Yes

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Jaeken, J., Artigas, J., Barone, R., Fiumara, A., De Koning, T. J., Poll-The, B. T., De Rijk-Van Andel, J. F., Hoffmann, G. F., Assmann, B., Mayatepek, E., Pineda, M., Vilaseca, M. A., Saudubray, J. M., Schlüter, B., Wevers, R., & Van Schaftingen, E. (1997). Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. Journal of Inherited Metabolic Disease, 20(3), 447-449. https://doi.org/10.1023/A:1005331523477

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

author = "J. Jaeken and J. Artigas and R. Barone and A. Fiumara and {De Koning}, {T. J.} and Poll-The, {B. T.} and {De Rijk-Van Andel}, {J. F.} and Hoffmann, {G. F.} and B. Assmann and E. Mayatepek and M. Pineda and Vilaseca, {M. A.} and Saudubray, {J. M.} and B. Schl{\"u}ter and R. Wevers and {Van Schaftingen}, E.",

year = "1997",

month = sep,

day = "4",

doi = "10.1023/A:1005331523477",

language = "English",

volume = "20",

pages = "447--449",

journal = "Journal of Inherited Metabolic Disease",

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Jaeken, J, Artigas, J, Barone, R, Fiumara, A, De Koning, TJ, Poll-The, BT, De Rijk-Van Andel, JF, Hoffmann, GF, Assmann, B, Mayatepek, E, Pineda, M, Vilaseca, MA, Saudubray, JM, Schlüter, B, Wevers, R & Van Schaftingen, E 1997, 'Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins', Journal of Inherited Metabolic Disease, vol. 20, no. 3, pp. 447-449. https://doi.org/10.1023/A:1005331523477

TY - JOUR

T1 - Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

AU - Jaeken, J.

AU - Artigas, J.

AU - Barone, R.

AU - Fiumara, A.

AU - De Koning, T. J.

AU - Poll-The, B. T.

AU - De Rijk-Van Andel, J. F.

AU - Hoffmann, G. F.

AU - Assmann, B.

AU - Mayatepek, E.

AU - Pineda, M.

AU - Vilaseca, M. A.

AU - Saudubray, J. M.

AU - Schlüter, B.

AU - Wevers, R.

AU - Van Schaftingen, E.

PY - 1997/9/4

Y1 - 1997/9/4

UR - http://www.scopus.com/inward/record.url?scp=8544228332&partnerID=8YFLogxK

U2 - 10.1023/A:1005331523477

DO - 10.1023/A:1005331523477

M3 - Article

C2 - 9266378

AN - SCOPUS:8544228332

SN - 0141-8955

VL - 20

SP - 447

EP - 449

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 3

ER -

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

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