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Updated: Jun 8, 2026

Metabolic Mapping: Quantitative Enzyme Cytochemistry and Histochemistry to Determine the Activity of Dehydrogenases in Cells and Tissues
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Metabolic Mapping: Quantitative Enzyme Cytochemistry and Histochemistry to Determine the Activity of Dehydrogenases in Cells and Tissues

Published on: May 26, 2018

mutaciones IDH2 en pacientes con aciduria D-2-hidroxiglutárico

Martijn Kranendijk1, Eduard A Struys, Emile van Schaftingen

  • 1Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, 1081 HV Amsterdam, Netherlands.

Science (New York, N.Y.)
|September 18, 2010
PubMed
Resumen

Las mutaciones de la línea germinal en el gen IDH2 causan aciduria d-2-hidroxyglutárica (D-2-HGA), un trastorno neurometabólico raro. Este descubrimiento pone de relieve el papel de D-2-HG en enfermedades metabólicas y cáncer.

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