Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

B. Nota; E.A. Struys; A. Pop; E.E. Jansen; M.R.F. Ojeda; W.A. Kanhai; M. Kranendijk; S.J.M. van Dooren; M.R. Bevova; E.A. Sistermans; A.W.M. Nieuwint; M. Barth; T. Ben-Omran; G.F. Hoffmann; P. de Lonlay; M.T. McDonald; A. Meberg; A.C. Muntau; J.M. Nuoffer; R. Parini; M.H. Read; A. Renneberg; R. Santer; T. Strahleck; E. van Schaftingen; M.S. van der Knaap; C.A.J.M. Jakobs; G.S. Salomons

doi:10.1016/j.ajhg.2013.03.009

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

B. Nota, E.A. Struys, A. Pop, E.E. Jansen, M.R.F. Ojeda, W.A. Kanhai, M. Kranendijk, S.J.M. van Dooren, M.R. Bevova, E.A. Sistermans, A.W.M. Nieuwint, M. Barth, T. Ben-Omran, G.F. Hoffmann, P. de Lonlay, M.T. McDonald, A. Meberg, A.C. Muntau, J.M. Nuoffer, R. PariniM.H. Read, A. Renneberg, R. Santer, T. Strahleck, E. van Schaftingen, M.S. van der Knaap, C.A.J.M. Jakobs, G.S. Salomons

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	627-631
Journal	American journal of human genetics
Volume	92
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2013.03.009
Publication status	Published - 2013

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10.1016/j.ajhg.2013.03.009

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Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Ojeda, M. R. F., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A. C., Nuoffer, J. M., ... Salomons, G. S. (2013). Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria. American journal of human genetics, 92(4), 627-631. https://doi.org/10.1016/j.ajhg.2013.03.009

Nota, B. ; Struys, E.A. ; Pop, A. ; Jansen, E.E. ; Ojeda, M.R.F. ; Kanhai, W.A. ; Kranendijk, M. ; van Dooren, S.J.M. ; Bevova, M.R. ; Sistermans, E.A. ; Nieuwint, A.W.M. ; Barth, M. ; Ben-Omran, T. ; Hoffmann, G.F. ; de Lonlay, P. ; McDonald, M.T. ; Meberg, A. ; Muntau, A.C. ; Nuoffer, J.M. ; Parini, R. ; Read, M.H. ; Renneberg, A. ; Santer, R. ; Strahleck, T. ; van Schaftingen, E. ; van der Knaap, M.S. ; Jakobs, C.A.J.M. ; Salomons, G.S. / Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria. In: American journal of human genetics. 2013 ; Vol. 92, No. 4. pp. 627-631.

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title = "Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria",

author = "B. Nota and E.A. Struys and A. Pop and E.E. Jansen and M.R.F. Ojeda and W.A. Kanhai and M. Kranendijk and {van Dooren}, S.J.M. and M.R. Bevova and E.A. Sistermans and A.W.M. Nieuwint and M. Barth and T. Ben-Omran and G.F. Hoffmann and {de Lonlay}, P. and M.T. McDonald and A. Meberg and A.C. Muntau and J.M. Nuoffer and R. Parini and M.H. Read and A. Renneberg and R. Santer and T. Strahleck and {van Schaftingen}, E. and {van der Knaap}, M.S. and C.A.J.M. Jakobs and G.S. Salomons",

year = "2013",

doi = "10.1016/j.ajhg.2013.03.009",

language = "Undefined/Unknown",

volume = "92",

pages = "627--631",

journal = "American journal of human genetics",

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Nota, B, Struys, EA, Pop, A, Jansen, EE, Ojeda, MRF, Kanhai, WA, Kranendijk, M, van Dooren, SJM, Bevova, MR, Sistermans, EA, Nieuwint, AWM, Barth, M, Ben-Omran, T, Hoffmann, GF, de Lonlay, P, McDonald, MT, Meberg, A, Muntau, AC, Nuoffer, JM, Parini, R, Read, MH, Renneberg, A, Santer, R, Strahleck, T, van Schaftingen, E, van der Knaap, MS , Jakobs, CAJM & Salomons, GS 2013, 'Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria', American journal of human genetics, vol. 92, no. 4, pp. 627-631. https://doi.org/10.1016/j.ajhg.2013.03.009

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria. / Nota, B.; Struys, E.A.; Pop, A.; Jansen, E.E.; Ojeda, M.R.F.; Kanhai, W.A.; Kranendijk, M.; van Dooren, S.J.M.; Bevova, M.R.; Sistermans, E.A.; Nieuwint, A.W.M.; Barth, M.; Ben-Omran, T.; Hoffmann, G.F.; de Lonlay, P.; McDonald, M.T.; Meberg, A.; Muntau, A.C.; Nuoffer, J.M.; Parini, R.; Read, M.H.; Renneberg, A.; Santer, R.; Strahleck, T.; van Schaftingen, E.; van der Knaap, M.S.; Jakobs, C.A.J.M.; Salomons, G.S.

In: American journal of human genetics, Vol. 92, No. 4, 2013, p. 627-631.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

AU - Nota, B.

AU - Struys, E.A.

AU - Pop, A.

AU - Jansen, E.E.

AU - Ojeda, M.R.F.

AU - Kanhai, W.A.

AU - Kranendijk, M.

AU - van Dooren, S.J.M.

AU - Bevova, M.R.

AU - Sistermans, E.A.

AU - Nieuwint, A.W.M.

AU - Barth, M.

AU - Ben-Omran, T.

AU - Hoffmann, G.F.

AU - de Lonlay, P.

AU - McDonald, M.T.

AU - Meberg, A.

AU - Muntau, A.C.

AU - Nuoffer, J.M.

AU - Parini, R.

AU - Read, M.H.

AU - Renneberg, A.

AU - Santer, R.

AU - Strahleck, T.

AU - van Schaftingen, E.

AU - van der Knaap, M.S.

AU - Jakobs, C.A.J.M.

AU - Salomons, G.S.

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.03.009

DO - 10.1016/j.ajhg.2013.03.009

M3 - Article

C2 - 23561848

VL - 92

SP - 627

EP - 631

JO - American journal of human genetics

JF - American journal of human genetics

SN - 0002-9297

IS - 4

ER -