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DOI: 10.1016/j.ajhg.2013.03.009
¤ OpenAccess: Hybrid
This work has “Hybrid” OA status. This means it is free under an open license in a toll-access journal.
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Benjamin Nota,Eduard A. Struys,Ana Pop,Erwin E.W. Jansen,Matilde R. Fernandez Ojeda,Warsha A. Kanhai,Martijn Kranendijk,Silvy J.M. van Dooren,Marianna R. Bevova,Erik A. Sistermans,A. W. M. Nieuwint,Magalie Barth,Tawfeg Ben‐Omran,Georg F. Hoffmann,Pascale de Lonlay,Marie McDonald,Alf Meberg,Ania C. Muntau,Jean‐Marc Nuoffer,Rossella Parini,Marie-Hélène Read,Axel Renneberg,René Santer,Thomas Strahleck,Emile Van Schaftingen,Marjo S. van der Knaap,Cornelis Jakobs,Gajja S. Salomons
Mutation
Metabolite
Mitochondrion
2013
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“Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria” is a paper by Benjamin Nota Eduard A. Struys Ana Pop Erwin E.W. Jansen Matilde R. Fernandez Ojeda Warsha A. Kanhai Martijn Kranendijk Silvy J.M. van Dooren Marianna R. Bevova Erik A. Sistermans A. W. M. Nieuwint Magalie Barth Tawfeg Ben‐Omran Georg F. Hoffmann Pascale de Lonlay Marie McDonald Alf Meberg Ania C. Muntau Jean‐Marc Nuoffer Rossella Parini Marie-Hélène Read Axel Renneberg René Santer Thomas Strahleck Emile Van Schaftingen Marjo S. van der Knaap Cornelis Jakobs Gajja S. Salomons published in 2013. It has an Open Access status of “hybrid”. You can read and download a PDF Full Text of this paper here.