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. Hoffmann; B. Assmann; E. Mayatepek; M. Pineda; M.A. Vilaseca; J.M. Saudubray; B. Schluter; R. Wevers; E. van Schaftingen

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. Hoffmann, B. Assmann, E. Mayatepek, M. Pineda, M.A. Vilaseca, J.M. Saudubray, B. Schluter, R. Wevers, E. van Schaftingen

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

Original language	Undefined/Unknown
Pages (from-to)	447-449
Number of pages	3
Journal	Journal of Inherited Metabolic Disease
Volume	20
Publication status	Published - 1997

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

Jaeken, J., Artigas, J., Barone, R., Fiumara, A., de Koning, T. J., Poll-The, B. T., de Rijk-van Andel, J. F., Hoffmann, G., Assmann, B., Mayatepek, E., Pineda, M., Vilaseca, M. A., Saudubray, J. M., Schluter, 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, 447-449.

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

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "J. Jaeken and J. Artigas and R. Barone and A. Fiumara and {de Koning}, T.J. and B.T. Poll-The and {de Rijk-van Andel}, J.F. and G. Hoffmann and B. Assmann and E. Mayatepek and M. Pineda and M.A. Vilaseca and J.M. Saudubray and B. Schluter and R. Wevers and {van Schaftingen}, E.",

year = "1997",

language = "Undefined/Unknown",

volume = "20",

pages = "447--449",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

}

Jaeken, J, Artigas, J, Barone, R, Fiumara, A, de Koning, TJ, Poll-The, BT, de Rijk-van Andel, JF, Hoffmann, G, Assmann, B, Mayatepek, E, Pineda, M, Vilaseca, MA, Saudubray, JM, Schluter, 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, pp. 447-449.

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.

AU - Assmann, B.

AU - Mayatepek, E.

AU - Pineda, M.

AU - Vilaseca, M.A.

AU - Saudubray, J.M.

AU - Schluter, B.

AU - Wevers, R.

AU - van Schaftingen, E.

PY - 1997

Y1 - 1997

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0141-8955

VL - 20

SP - 447

EP - 449

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

ER -