An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study

M.E. Steenweg; C. Jakobs; A. Errami; S.J.M. van Dooren; M.T.A. Bartolome; P. Aerssens; I. Baric; M. Baumann; L. Bonafe; B. Chabrol; J.T.R. Clarke; P. Clayton; M. Coker; S. Cooper; T. Falik-Zaccai; M. Gorman; A. Hahn; A. Hasanoglu; M.D. King; H.B.C. de Klerk; S.H. Korman; C. Lee; A.M. Lund; V. Mejaski-Bosnjak; I. Pascual-Castroviejo; A. Raadhyaksha; T. Rootwelt; A. Roubertie; M.L. Ruiz-Falco; E. Scalais; U. Schimmel; M. Seijo-Martinez; M. Suri; J. Sykut-Cegielska; F.K. Trefz; G. Uziel; V. Valayannopoulos; C. Vianey-Saban; S. Vlaho; J. Vodopiutz; M. Wajner; J. Walter; C. Walter-Derbort; Z. Yapici; D.I. Zafeiriou; M.D. Spreeuwenberg; J. Celli; J.T. den Dunnen; M.S. van der Knaap; G.S. Salomons

doi:10.1002/humu.21197

An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study

M.E. Steenweg, C. Jakobs, A. Errami, S.J.M. van Dooren, M.T.A. Bartolome, P. Aerssens, I. Baric, M. Baumann, L. Bonafe, B. Chabrol, J.T.R. Clarke, P. Clayton, M. Coker, S. Cooper, T. Falik-Zaccai, M. Gorman, A. Hahn, A. Hasanoglu, M.D. King, H.B.C. de KlerkS.H. Korman, C. Lee, A.M. Lund, V. Mejaski-Bosnjak, I. Pascual-Castroviejo, A. Raadhyaksha, T. Rootwelt, A. Roubertie, M.L. Ruiz-Falco, E. Scalais, U. Schimmel, M. Seijo-Martinez, M. Suri, J. Sykut-Cegielska, F.K. Trefz, G. Uziel, V. Valayannopoulos, C. Vianey-Saban, S. Vlaho, J. Vodopiutz, M. Wajner, J. Walter, C. Walter-Derbort, Z. Yapici, D.I. Zafeiriou, M.D. Spreeuwenberg, J. Celli, J.T. den Dunnen, M.S. van der Knaap, G.S. Salomons

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

Original language	Undefined/Unknown
Pages (from-to)	380-390
Journal	Human Mutation
Volume	31
Issue number	4
DOIs	https://doi.org/10.1002/humu.21197
Publication status	Published - 2010

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10.1002/humu.21197

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Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Bartolome, M. T. A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., ... Salomons, G. S. (2010). An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study. Human Mutation, 31(4), 380-390. https://doi.org/10.1002/humu.21197

Steenweg, M.E. ; Jakobs, C. ; Errami, A. ; van Dooren, S.J.M. ; Bartolome, M.T.A. ; Aerssens, P. ; Baric, I. ; Baumann, M. ; Bonafe, L. ; Chabrol, B. ; Clarke, J.T.R. ; Clayton, P. ; Coker, M. ; Cooper, S. ; Falik-Zaccai, T. ; Gorman, M. ; Hahn, A. ; Hasanoglu, A. ; King, M.D. ; de Klerk, H.B.C. ; Korman, S.H. ; Lee, C. ; Lund, A.M. ; Mejaski-Bosnjak, V. ; Pascual-Castroviejo, I. ; Raadhyaksha, A. ; Rootwelt, T. ; Roubertie, A. ; Ruiz-Falco, M.L. ; Scalais, E. ; Schimmel, U. ; Seijo-Martinez, M. ; Suri, M. ; Sykut-Cegielska, J. ; Trefz, F.K. ; Uziel, G. ; Valayannopoulos, V. ; Vianey-Saban, C. ; Vlaho, S. ; Vodopiutz, J. ; Wajner, M. ; Walter, J. ; Walter-Derbort, C. ; Yapici, Z. ; Zafeiriou, D.I. ; Spreeuwenberg, M.D. ; Celli, J. ; den Dunnen, J.T. ; van der Knaap, M.S. ; Salomons, G.S. / An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study. In: Human Mutation. 2010 ; Vol. 31, No. 4. pp. 380-390.

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title = "An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study",

author = "M.E. Steenweg and C. Jakobs and A. Errami and {van Dooren}, S.J.M. and M.T.A. Bartolome and P. Aerssens and I. Baric and M. Baumann and L. Bonafe and B. Chabrol and J.T.R. Clarke and P. Clayton and M. Coker and S. Cooper and T. Falik-Zaccai and M. Gorman and A. Hahn and A. Hasanoglu and M.D. King and {de Klerk}, H.B.C. and S.H. Korman and C. Lee and A.M. Lund and V. Mejaski-Bosnjak and I. Pascual-Castroviejo and A. Raadhyaksha and T. Rootwelt and A. Roubertie and M.L. Ruiz-Falco and E. Scalais and U. Schimmel and M. Seijo-Martinez and M. Suri and J. Sykut-Cegielska and F.K. Trefz and G. Uziel and V. Valayannopoulos and C. Vianey-Saban and S. Vlaho and J. Vodopiutz and M. Wajner and J. Walter and C. Walter-Derbort and Z. Yapici and D.I. Zafeiriou and M.D. Spreeuwenberg and J. Celli and {den Dunnen}, J.T. and {van der Knaap}, M.S. and G.S. Salomons",

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pages = "380--390",

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Steenweg, ME, Jakobs, C, Errami, A, van Dooren, SJM, Bartolome, MTA, Aerssens, P, Baric, I, Baumann, M, Bonafe, L, Chabrol, B, Clarke, JTR, Clayton, P, Coker, M, Cooper, S, Falik-Zaccai, T, Gorman, M, Hahn, A, Hasanoglu, A, King, MD, de Klerk, HBC, Korman, SH, Lee, C, Lund, AM, Mejaski-Bosnjak, V, Pascual-Castroviejo, I, Raadhyaksha, A, Rootwelt, T, Roubertie, A, Ruiz-Falco, ML, Scalais, E, Schimmel, U, Seijo-Martinez, M, Suri, M, Sykut-Cegielska, J, Trefz, FK, Uziel, G, Valayannopoulos, V, Vianey-Saban, C, Vlaho, S, Vodopiutz, J, Wajner, M, Walter, J, Walter-Derbort, C, Yapici, Z, Zafeiriou, DI, Spreeuwenberg, MD, Celli, J, den Dunnen, JT, van der Knaap, MS & Salomons, GS 2010, 'An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study', Human Mutation, vol. 31, no. 4, pp. 380-390. https://doi.org/10.1002/humu.21197

An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study. / Steenweg, M.E.; Jakobs, C.; Errami, A.; van Dooren, S.J.M.; Bartolome, M.T.A.; Aerssens, P.; Baric, I.; Baumann, M.; Bonafe, L.; Chabrol, B.; Clarke, J.T.R.; Clayton, P.; Coker, M.; Cooper, S.; Falik-Zaccai, T.; Gorman, M.; Hahn, A.; Hasanoglu, A.; King, M.D.; de Klerk, H.B.C.; Korman, S.H.; Lee, C.; Lund, A.M.; Mejaski-Bosnjak, V.; Pascual-Castroviejo, I.; Raadhyaksha, A.; Rootwelt, T.; Roubertie, A.; Ruiz-Falco, M.L.; Scalais, E.; Schimmel, U.; Seijo-Martinez, M.; Suri, M.; Sykut-Cegielska, J.; Trefz, F.K.; Uziel, G.; Valayannopoulos, V.; Vianey-Saban, C.; Vlaho, S.; Vodopiutz, J.; Wajner, M.; Walter, J.; Walter-Derbort, C.; Yapici, Z.; Zafeiriou, D.I.; Spreeuwenberg, M.D.; Celli, J.; den Dunnen, J.T.; van der Knaap, M.S.; Salomons, G.S.

In: Human Mutation, Vol. 31, No. 4, 2010, p. 380-390.

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

TY - JOUR

T1 - An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study

AU - Steenweg, M.E.

AU - Jakobs, C.

AU - Errami, A.

AU - van Dooren, S.J.M.

AU - Bartolome, M.T.A.

AU - Aerssens, P.

AU - Baric, I.

AU - Baumann, M.

AU - Bonafe, L.

AU - Chabrol, B.

AU - Clarke, J.T.R.

AU - Clayton, P.

AU - Coker, M.

AU - Cooper, S.

AU - Falik-Zaccai, T.

AU - Gorman, M.

AU - Hahn, A.

AU - Hasanoglu, A.

AU - King, M.D.

AU - de Klerk, H.B.C.

AU - Korman, S.H.

AU - Lee, C.

AU - Lund, A.M.

AU - Mejaski-Bosnjak, V.

AU - Pascual-Castroviejo, I.

AU - Raadhyaksha, A.

AU - Rootwelt, T.

AU - Roubertie, A.

AU - Ruiz-Falco, M.L.

AU - Scalais, E.

AU - Schimmel, U.

AU - Seijo-Martinez, M.

AU - Suri, M.

AU - Sykut-Cegielska, J.

AU - Trefz, F.K.

AU - Uziel, G.

AU - Valayannopoulos, V.

AU - Vianey-Saban, C.

AU - Vlaho, S.

AU - Vodopiutz, J.

AU - Wajner, M.

AU - Walter, J.

AU - Walter-Derbort, C.

AU - Yapici, Z.

AU - Zafeiriou, D.I.

AU - Spreeuwenberg, M.D.

AU - Celli, J.

AU - den Dunnen, J.T.

AU - van der Knaap, M.S.

AU - Salomons, G.S.

PY - 2010

Y1 - 2010

U2 - 10.1002/humu.21197

DO - 10.1002/humu.21197

M3 - Article

C2 - 20052767

VL - 31

SP - 380

EP - 390

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 4

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