Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I

L. Dorland; T.J. de Koning; O.P. van Diggelen; A.M.C. Boonman; G.J. de Jong; W.L. van Noort; J.E.A.R. Schryver; M. Duran; I.E.T. van den Berg; G.J. Gerwig; R. Berger; B.T. Poll-The

Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I

Translated title of the contribution: Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I

L. Dorland, T.J. de Koning, O.P. van Diggelen, A.M.C. Boonman, G.J. de Jong, W.L. van Noort, J.E.A.R. Schryver, M. Duran, I.E.T. van den Berg, G.J. Gerwig, R. Berger, B.T. Poll-The

Research output: Contribution to conference › Abstract › Other research output

Translated title of the contribution	Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I
Original language	Undefined/Unknown
Number of pages	1
Publication status	Published - 1998
Event	Unknown event - Duration: 1 Jan 2001 → …

Conference

Conference	Unknown event
Period	1/01/01 → …

Keywords

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

Cite this

Dorland, L., de Koning, T. J., van Diggelen, O. P., Boonman, A. M. C., de Jong, G. J., van Noort, W. L., Schryver, J. E. A. R., Duran, M., van den Berg, I. E. T., Gerwig, G. J., Berger, R., & Poll-The, B. T. (1998). Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I. Abstract from Unknown event.

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title = "Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I",

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

author = "L. Dorland and {de Koning}, T.J. and {van Diggelen}, O.P. and A.M.C. Boonman and {de Jong}, G.J. and {van Noort}, W.L. and J.E.A.R. Schryver and M. Duran and {van den Berg}, I.E.T. and G.J. Gerwig and R. Berger and B.T. Poll-The",

year = "1998",

language = "Undefined/Unknown",

note = "Unknown event ; Conference date: 01-01-2001",

}

TY - CONF

T1 - Phosphomannose isomerase deficiency, a novel defect of N-glycosylation presenting as carbohydrate deficient glycoprotein syndrome type I

AU - Dorland, L.

AU - de Koning, T.J.

AU - van Diggelen, O.P.

AU - Boonman, A.M.C.

AU - de Jong, G.J.

AU - van Noort, W.L.

AU - Schryver, J.E.A.R.

AU - Duran, M.

AU - van den Berg, I.E.T.

AU - Gerwig, G.J.

AU - Berger, R.

AU - Poll-The, B.T.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Abstract

T2 - Unknown event

Y2 - 1 January 2001

ER -