IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

被引：165

作者：

Kranendijk, Martijn ^{[1
]}

Struys, Eduard A. ^{[1
]}

van Schaftingen, Emile ^{[2
]}

Gibson, K. Michael ^{[3
]}

Kanhai, Warsha A. ^{[1
]}

van der Knaap, Marjo S. ^{[4
]}

Amiel, Jeanne ^{[5
,6
]}

Buist, Neil R. ^{[7
,8
]}

Das, Anibh M. ^{[9
]}

de Klerk, Johannis B. ^{[10
]}

Feigenbaum, Annette S. ^{[11
,12
]}

Grange, Dorothy K. ^{[13
]}

Hofstede, Floris C. ^{[14
]}

Holme, Elisabeth ^{[15
]}

Kirk, Edwin P. ^{[16
]}

Korman, Stanley H. ^{[17
]}

Morava, Eva ^{[18
]}

Morris, Andrew ^{[19
]}

Smeitink, Jan ^{[20
]}

Sukhai, Ram N. ^{[21
]}

Vallance, Hilary ^{[22
]}

Jakobs, Cornelis ^{[1
]}

Salomons, Gajja S. ^{[1
]}

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Dept Clin Chem, Metab Unit, NL-1081 HV Amsterdam, Netherlands

[2] Catholic Univ Louvain, de Duve Inst, Lab Phys Chem, Louvain, Belgium

[3] Michigan Technol Univ, Dept Biol Sci, Houghton, MI 49931 USA

[4] Vrije Univ Amsterdam, Med Ctr Amsterdam, Dept Child Neurol, Amsterdam, Netherlands

[5] Univ Paris 05, Hop Necker, Dept Genet, Paris, France

[6] Univ Paris 05, Hop Necker, INSERM, U781, Paris, France

[7] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR USA

[8] Oregon Hlth & Sci Univ, Dept Med Genet, Portland, OR USA

[9] Hannover Med Sch, Hannover, Germany

[10] ErasmusMC Sophia Childrens Hosp, Dept Metab Dis, Rotterdam, Netherlands

[11] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[12] Univ Toronto, Toronto, ON, Canada

[13] Washington Univ, Sch Med, St Louis Childrens Hosp, Dept Pediat,Div Genet & Genom Med, St Louis, MO USA

[14] Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Metab Dis, Utrecht, Netherlands

[15] Univ Gothenburg, Sahlgrenska Univer Hosp, Dept Clin Chem & Transfus Med, Gothenburg, Sweden

[16] Sydney Childrens Hosp, Dept Med Genet, Sydney, NSW, Australia

[17] Hadassah Hebrew Univ, Med Ctr, Dept Human Genet & Metab Dis, Jerusalem, Israel

[18] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[19] Children Natl Hlth Serv Trust, Great Ormond St Hosp, London, England

[20] Radboud Univ Nijmegen, Med Ctr, Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands

[21] Leiden Univ, Med Ctr, Leiden, Netherlands

[22] Univ British Columbia, BC Childrens Hosp, Dept Pathol & Lab Med, Vancouver, BC, Canada

来源：

SCIENCE | 2010年 / 330卷 / 6002期

关键词：

D O I：

10.1126/science.1192632

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：336 / 336

页数：1

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