Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Benjamin Nota; Eline M Hamilton; Daoud Sie; Senay Ozturk; Silvy J M van Dooren; Matilde R Fernandez Ojeda; Cornelis Jakobs; Ernst Christensen; Edwin P Kirk; Jolanta Sykut-Cegielska; Allan M Lund; Marjo S van der Knaap; Gajja S Salomons

doi:10.1136/jmedgenet-2013-101961

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Somatic mosaicism

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Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

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Benjamin Nota Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Eline M Hamilton Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands PubMed articles Google scholar articles
Daoud Sie Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Senay Ozturk Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Silvy J M van Dooren Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Matilde R Fernandez Ojeda Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Cornelis Jakobs Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles
Ernst Christensen Department of Clinical Genetics, Center for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark PubMed articles Google scholar articles
Edwin P Kirk Department of Medical Genetics, Sydney Children's Hospital, Randwick, Australia PubMed articles Google scholar articles
Jolanta Sykut-Cegielska Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland PubMed articles Google scholar articles
Allan M Lund Department of Clinical Genetics, Center for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark PubMed articles Google scholar articles
Marjo S van der Knaap Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands PubMed articles Google scholar articles
Gajja S Salomons Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Benjamin Nota, Department of Clinical Chemistry, VU University Medical Center, Metabolic Laboratory, PK 1-X-010, de Boelelaan 1117 Amsterdam 1081 HV, The Netherlands; benjamin.nota{at}gmail.com or Gajja S Salomons; g.salomons{at}vumc.nl

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Citation

Nota B, Hamilton EM, Sie D, et al

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Journal of Medical Genetics 2013;50:754-759.

Publication history

Received July 29, 2013
Revised August 23, 2013
Accepted August 26, 2013
First published September 18, 2013.

Online issue publication

April 27, 2016

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