Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.

L.W.J. Klomp; T.J. de Koning; H.E.M. Malingre; E.A.C.M. van Beurden; M. Brink; F.L. Opdam; M. Duran; J. Jaeken; M. Pineda; L. van Maldergem; B.T. Poll-The; I.E.T. van den Berg; R. Berger

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.

Translated title of the contribution: Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.

L.W.J. Klomp
, T.J. de Koning
, H.E.M. Malingre
, E.A.C.M. van Beurden
, M. Brink
, F.L. Opdam
, M. Duran
, J. Jaeken
, M. Pineda
, L. van Maldergem
, B.T. Poll-The
, I.E.T. van den Berg
, R. Berger

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

Translated title of the contribution	Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.
Original language	Undefined/Unknown
Pages (from-to)	1389-1399
Number of pages	11
Journal	American Journal of Human Genetics
Volume	67
Publication status	Published - 2000

Keywords

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

Cite this

Klomp, L. W. J., de Koning, T. J., Malingre, H. E. M., van Beurden, E. A. C. M., Brink, M., Opdam, F. L., Duran, M., Jaeken, J., Pineda, M., van Maldergem, L., Poll-The, B. T., van den Berg, I. E. T., & Berger, R. (2000). Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis. American Journal of Human Genetics, 67, 1389-1399.

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title = "Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.",

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

author = "L.W.J. Klomp and \{de Koning\}, T.J. and H.E.M. Malingre and \{van Beurden\}, E.A.C.M. and M. Brink and F.L. Opdam and M. Duran and J. Jaeken and M. Pineda and \{van Maldergem\}, L. and B.T. Poll-The and \{van den Berg\}, I.E.T. and R. Berger",

year = "2000",

language = "Undefined/Unknown",

volume = "67",

pages = "1389--1399",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

Klomp, LWJ, de Koning, TJ, Malingre, HEM, van Beurden, EACM, Brink, M, Opdam, FL, Duran, M, Jaeken, J, Pineda, M, van Maldergem, L, Poll-The, BT, van den Berg, IET & Berger, R 2000, 'Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.', American Journal of Human Genetics, vol. 67, pp. 1389-1399.

TY - JOUR

T1 - Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency, a neurometabolic disorder associated with reduced L-serine biosynthesis.

AU - Klomp, L.W.J.

AU - de Koning, T.J.

AU - Malingre, H.E.M.

AU - van Beurden, E.A.C.M.

AU - Brink, M.

AU - Opdam, F.L.

AU - Duran, M.

AU - Jaeken, J.

AU - Pineda, M.

AU - van Maldergem, L.

AU - Poll-The, B.T.

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

AU - Berger, R.

PY - 2000

Y1 - 2000

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0002-9297

VL - 67

SP - 1389

EP - 1399

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -