Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Tjitske Kleefstra; Saskia Wortmann; Richard J T Rodenburg; Ernie M H F Bongers; Kinga Hadzsiev; Cees Noordam; Lambert P van den Heuvel; Willy M Nillesen; Katalin Hollody; Gabrielle Gillessen-Kaesbach; Martin Lammens; Jan A M Smeitink; Ineke van der Burgt; Eva Morava

doi:10.1038/ejhg.2010.171

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Tjitske Kleefstra, Saskia Wortmann (First author), Richard J T Rodenburg, Ernie M H F Bongers, Kinga Hadzsiev, Cees Noordam, Lambert P van den Heuvel, Willy M Nillesen, Katalin Hollody, Gabrielle Gillessen-Kaesbach, Martin Lammens, Jan A M Smeitink, Ineke van der Burgt, Eva Morava

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

39 Citations (Web of Science)

Original language	English
Pages (from-to)	138-144
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	19
Issue number	2
DOIs	https://doi.org/10.1038/ejhg.2010.171
Publication status	Published - 2011

Keywords

X-LINKED ICHTHYOSIS
NOONAN-SYNDROME
DEFICIENCY
DISORDER
METABOLISM

Access to Document

10.1038/ejhg.2010.171

Cite this

Kleefstra, T., Wortmann, S., Rodenburg, R. J. T., Bongers, E. M. H. F., Hadzsiev, K., Noordam, C., van den Heuvel, L. P., Nillesen, W. M., Hollody, K., Gillessen-Kaesbach, G., Lammens, M., Smeitink, J. A. M., van der Burgt, I., & Morava, E. (2011). Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. EUROPEAN JOURNAL OF HUMAN GENETICS , 19(2), 138-144. https://doi.org/10.1038/ejhg.2010.171

Kleefstra, Tjitske ; Wortmann, Saskia ; Rodenburg, Richard J T et al. / Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2011 ; Vol. 19, No. 2. pp. 138-144.

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author = "Tjitske Kleefstra and Saskia Wortmann and Rodenburg, {Richard J T} and Bongers, {Ernie M H F} and Kinga Hadzsiev and Cees Noordam and {van den Heuvel}, {Lambert P} and Nillesen, {Willy M} and Katalin Hollody and Gabrielle Gillessen-Kaesbach and Martin Lammens and Smeitink, {Jan A M} and {van der Burgt}, Ineke and Eva Morava",

year = "2011",

doi = "10.1038/ejhg.2010.171",

language = "English",

volume = "19",

pages = "138--144",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

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Kleefstra, T, Wortmann, S, Rodenburg, RJT, Bongers, EMHF, Hadzsiev, K, Noordam, C, van den Heuvel, LP, Nillesen, WM, Hollody, K, Gillessen-Kaesbach, G, Lammens, M, Smeitink, JAM, van der Burgt, I & Morava, E 2011, 'Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 19, no. 2, pp. 138-144. https://doi.org/10.1038/ejhg.2010.171

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. / Kleefstra, Tjitske; Wortmann, Saskia (First author); Rodenburg, Richard J T et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 19, No. 2, 2011, p. 138-144.

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

TY - JOUR

T1 - Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

AU - Kleefstra, Tjitske

AU - Wortmann, Saskia

AU - Rodenburg, Richard J T

AU - Bongers, Ernie M H F

AU - Hadzsiev, Kinga

AU - Noordam, Cees

AU - van den Heuvel, Lambert P

AU - Nillesen, Willy M

AU - Hollody, Katalin

AU - Gillessen-Kaesbach, Gabrielle

AU - Lammens, Martin

AU - Smeitink, Jan A M

AU - van der Burgt, Ineke

AU - Morava, Eva

PY - 2011

Y1 - 2011

KW - X-LINKED ICHTHYOSIS

KW - NOONAN-SYNDROME

KW - DEFICIENCY

KW - DISORDER

KW - METABOLISM

U2 - 10.1038/ejhg.2010.171

DO - 10.1038/ejhg.2010.171

M3 - Original Article

C2 - 21063443

SN - 1018-4813

VL - 19

SP - 138

EP - 144

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 2

ER -

Kleefstra T, Wortmann S, Rodenburg RJT, Bongers EMHF, Hadzsiev K, Noordam C et al. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. EUROPEAN JOURNAL OF HUMAN GENETICS . 2011;19(2):138-144. doi: 10.1038/ejhg.2010.171