Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

E.A. Struys; G.S. Salomons; Y. Achouri; E. van Schaftingen; S. Grosso; W.J. Craigen; N.M. Verhoeven; C.A.J.M. Jakobs

doi:https://doi.org/10.1086/427890

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

E.A. Struys, G.S. Salomons, Y. Achouri, E. van Schaftingen, S. Grosso, W.J. Craigen, N.M. Verhoeven, C.A.J.M. Jakobs

Amsterdam UMC

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

135 Citations (Scopus)

Original language	English
Pages (from-to)	358-360
Journal	American journal of human genetics
Volume	76
Issue number	2
DOIs	https://doi.org/10.1086/427890
Publication status	Published - 2005

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https://doi.org/10.1086/427890

Cite this

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title = "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria",

author = "E.A. Struys and G.S. Salomons and Y. Achouri and {van Schaftingen}, E. and S. Grosso and W.J. Craigen and N.M. Verhoeven and C.A.J.M. Jakobs",

year = "2005",

doi = "https://doi.org/10.1086/427890",

language = "English",

volume = "76",

pages = "358--360",

journal = "American journal of human genetics",

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T1 - Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria

AU - Struys, E.A.

AU - Salomons, G.S.

AU - Achouri, Y.

AU - van Schaftingen, E.

AU - Grosso, S.

AU - Craigen, W.J.

AU - Verhoeven, N.M.

AU - Jakobs, C.A.J.M.

PY - 2005

Y1 - 2005

U2 - https://doi.org/10.1086/427890

DO - https://doi.org/10.1086/427890

M3 - Article

SN - 0002-9297

VL - 76

SP - 358

EP - 360

JO - American journal of human genetics

JF - American journal of human genetics

IS - 2

ER -