IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk; Eduard A. Struys; Emile Van Schaftingen; K. Michael Gibson; Warsha A. Kanhai; Marjo S. Van Der Knaap; Jeanne Amiel; Neil R. Buist; Anibh M. Das; Johannis B. De Klerk; Annette S. Feigenbaum; Dorothy K. Grange; Floris C. Hofstede; Elisabeth Holme; Edwin P. Kirk; Stanley H. Korman; Eva Morava; Andrew Morris; Jan Smeitink; Rám N. Sukhai; Hilary Vallance; Cornelis Jakobs; Gajja S. Salomons

doi:10.1126/science.1192632

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk
, Eduard A. Struys
, Emile Van Schaftingen
, K. Michael Gibson
, Warsha A. Kanhai
, Marjo S. Van Der Knaap
, Jeanne Amiel
, Neil R. Buist
, Anibh M. Das
, Johannis B. De Klerk
, Annette S. Feigenbaum
, Dorothy K. Grange
, Floris C. Hofstede
, Elisabeth Holme
, Edwin P. Kirk
, Stanley H. Korman
, Eva Morava
, Andrew Morris
, Jan Smeitink
, Rám N. Sukhai

Hilary Vallance, Cornelis Jakobs, Gajja S. Salomons

Research output: Contribution to journal › Short survey › peer-review

180 Scopus citations

Original language	English
Pages (from-to)	336
Number of pages	1
Journal	Science
Volume	330
Issue number	6002
DOIs	https://doi.org/10.1126/science.1192632
State	Published - Oct 15 2010

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Kranendijk, M., Struys, E. A., Van Schaftingen, E., Gibson, K. M., Kanhai, W. A., Van Der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., De Klerk, J. B., Feigenbaum, A. S., Grange, D. K., Hofstede, F. C., Holme, E., Kirk, E. P., Korman, S. H., Morava, E., Morris, A., Smeitink, J., ... Salomons, G. S. (2010). IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science, 330(6002), 336. https://doi.org/10.1126/science.1192632

@article{e1b8db743489476eb16c502fccdf0cc9,

title = "IDH2 mutations in patients with D-2-hydroxyglutaric aciduria",

author = "Martijn Kranendijk and Struys, \{Eduard A.\} and \{Van Schaftingen\}, Emile and Gibson, \{K. Michael\} and Kanhai, \{Warsha A.\} and \{Van Der Knaap\}, \{Marjo S.\} and Jeanne Amiel and Buist, \{Neil R.\} and Das, \{Anibh M.\} and \{De Klerk\}, \{Johannis B.\} and Feigenbaum, \{Annette S.\} and Grange, \{Dorothy K.\} and Hofstede, \{Floris C.\} and Elisabeth Holme and Kirk, \{Edwin P.\} and Korman, \{Stanley H.\} and Eva Morava and Andrew Morris and Jan Smeitink and Sukhai, \{R{\'a}m N.\} and Hilary Vallance and Cornelis Jakobs and Salomons, \{Gajja S.\}",

year = "2010",

month = oct,

day = "15",

doi = "10.1126/science.1192632",

language = "English",

volume = "330",

pages = "336",

journal = "Science",

issn = "0036-8075",

number = "6002",

}

Kranendijk, M, Struys, EA, Van Schaftingen, E, Gibson, KM, Kanhai, WA, Van Der Knaap, MS, Amiel, J, Buist, NR, Das, AM, De Klerk, JB, Feigenbaum, AS, Grange, DK, Hofstede, FC, Holme, E, Kirk, EP, Korman, SH, Morava, E, Morris, A, Smeitink, J, Sukhai, RN, Vallance, H, Jakobs, C & Salomons, GS 2010, 'IDH2 mutations in patients with D-2-hydroxyglutaric aciduria', Science, vol. 330, no. 6002, pp. 336. https://doi.org/10.1126/science.1192632

TY - JOUR

T1 - IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

AU - Kranendijk, Martijn

AU - Struys, Eduard A.

AU - Van Schaftingen, Emile

AU - Gibson, K. Michael

AU - Kanhai, Warsha A.

AU - Van Der Knaap, Marjo S.

AU - Amiel, Jeanne

AU - Buist, Neil R.

AU - Das, Anibh M.

AU - De Klerk, Johannis B.

AU - Feigenbaum, Annette S.

AU - Grange, Dorothy K.

AU - Hofstede, Floris C.

AU - Holme, Elisabeth

AU - Kirk, Edwin P.

AU - Korman, Stanley H.

AU - Morava, Eva

AU - Morris, Andrew

AU - Smeitink, Jan

AU - Sukhai, Rám N.

AU - Vallance, Hilary

AU - Jakobs, Cornelis

AU - Salomons, Gajja S.

PY - 2010/10/15

Y1 - 2010/10/15

UR - https://www.scopus.com/pages/publications/77957948775

U2 - 10.1126/science.1192632

DO - 10.1126/science.1192632

M3 - Short survey

C2 - 20847235

AN - SCOPUS:77957948775

SN - 0036-8075

VL - 330

SP - 336

JO - Science

JF - Science

IS - 6002

ER -

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

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