Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

M. Huemer; D. Karall; A. Schossig; J.E. Abdenur; F. Al Jasmi; C. Biagosch; F. Distelmaier; P. Freisinger; B.H. Graham; T.B. Haack; N. Hauser; J. Hertecant; D. Ebrahimi-Fakhari; V. Konstantopoulou; K. Leydiker; C.M. Lourenco; S. Scholl-Burgi; E. Wilichowski; N.I. Wolf; S.B. Wortmann; R.W. Taylor; J.A. Mayr; P.E. Bonnen; W. Sperl; H. Prokisch; R. McFarland

doi:https://doi.org/10.1007/s10545-015-9836-6

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

M. Huemer, D. Karall, A. Schossig, J.E. Abdenur, F. Al Jasmi, C. Biagosch, F. Distelmaier, P. Freisinger, B.H. Graham, T.B. Haack, N. Hauser, J. Hertecant, D. Ebrahimi-Fakhari, V. Konstantopoulou, K. Leydiker, C.M. Lourenco, S. Scholl-Burgi, E. Wilichowski, N.I. Wolf, S.B. WortmannR.W. Taylor, J.A. Mayr, P.E. Bonnen, W. Sperl, H. Prokisch, R. McFarland

Pediatric surgery (VUmc)

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

41 Citations (Scopus)

Original language	English
Pages (from-to)	905-914
Journal	Journal of Inherited Metabolic Disease
Volume	38
Issue number	5
DOIs	https://doi.org/10.1007/s10545-015-9836-6
Publication status	Published - 2015

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https://doi.org/10.1007/s10545-015-9836-6

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Huemer, M., Karall, D., Schossig, A., Abdenur, J. E., Al Jasmi, F., Biagosch, C., Distelmaier, F., Freisinger, P., Graham, B. H., Haack, T. B., Hauser, N., Hertecant, J., Ebrahimi-Fakhari, D., Konstantopoulou, V., Leydiker, K., Lourenco, C. M., Scholl-Burgi, S., Wilichowski, E., Wolf, N. I., ... McFarland, R. (2015). Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Journal of Inherited Metabolic Disease, 38(5), 905-914. https://doi.org/10.1007/s10545-015-9836-6

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author = "M. Huemer and D. Karall and A. Schossig and J.E. Abdenur and {Al Jasmi}, F. and C. Biagosch and F. Distelmaier and P. Freisinger and B.H. Graham and T.B. Haack and N. Hauser and J. Hertecant and D. Ebrahimi-Fakhari and V. Konstantopoulou and K. Leydiker and C.M. Lourenco and S. Scholl-Burgi and E. Wilichowski and N.I. Wolf and S.B. Wortmann and R.W. Taylor and J.A. Mayr and P.E. Bonnen and W. Sperl and H. Prokisch and R. McFarland",

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Huemer, M, Karall, D, Schossig, A, Abdenur, JE, Al Jasmi, F, Biagosch, C, Distelmaier, F, Freisinger, P, Graham, BH, Haack, TB, Hauser, N, Hertecant, J, Ebrahimi-Fakhari, D, Konstantopoulou, V, Leydiker, K, Lourenco, CM, Scholl-Burgi, S, Wilichowski, E, Wolf, NI, Wortmann, SB, Taylor, RW, Mayr, JA, Bonnen, PE, Sperl, W, Prokisch, H & McFarland, R 2015, 'Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations', Journal of Inherited Metabolic Disease, vol. 38, no. 5, pp. 905-914. https://doi.org/10.1007/s10545-015-9836-6

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T1 - Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

AU - Huemer, M.

AU - Karall, D.

AU - Schossig, A.

AU - Abdenur, J.E.

AU - Al Jasmi, F.

AU - Biagosch, C.

AU - Distelmaier, F.

AU - Freisinger, P.

AU - Graham, B.H.

AU - Haack, T.B.

AU - Hauser, N.

AU - Hertecant, J.

AU - Ebrahimi-Fakhari, D.

AU - Konstantopoulou, V.

AU - Leydiker, K.

AU - Lourenco, C.M.

AU - Scholl-Burgi, S.

AU - Wilichowski, E.

AU - Wolf, N.I.

AU - Wortmann, S.B.

AU - Taylor, R.W.

AU - Mayr, J.A.

AU - Bonnen, P.E.

AU - Sperl, W.

AU - Prokisch, H.

AU - McFarland, R.

PY - 2015

Y1 - 2015

U2 - https://doi.org/10.1007/s10545-015-9836-6

DO - https://doi.org/10.1007/s10545-015-9836-6

M3 - Article

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SN - 0141-8955

VL - 38

SP - 905

EP - 914

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

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