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 (Erstautor/-in), 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

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

39 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	138-144
Fachzeitschrift	EUROPEAN JOURNAL OF HUMAN GENETICS
Jahrgang	19
Ausgabenummer	2
DOIs	https://doi.org/10.1038/ejhg.2010.171
Publikationsstatus	Veröffentlicht - 2011

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10.1038/ejhg.2010.171

Dieses zitieren

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 ; Jahrgang 19, Nr. 2. S. 138-144.

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

keywords = "X-LINKED ICHTHYOSIS, NOONAN-SYNDROME, DEFICIENCY, DISORDER, METABOLISM",

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 , Jg. 19, Nr. 2, S. 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 (Erstautor/-in); Rodenburg, Richard J T et al.
in: EUROPEAN JOURNAL OF HUMAN GENETICS , Jahrgang 19, Nr. 2, 2011, S. 138-144.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

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