3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Saskia Wortmann; Leo A J Kluijtmans; Richard J Rodenburg; Jörn Oliver Sass; Jessica Nouws; Edwin P van Kaauwen; Tjitske Kleefstra; Lisbeth Tranebjaerg; Maaike C de Vries; Pirjo Isohanni; Katharina Walter; Fowzan S Alkuraya; Izelle Smuts; Carolus J Reinecke; Francois H van der Westhuizen; David Thorburn; Jan A M Smeitink; Eva Morava; Ron A Wevers

doi:10.1007/s10545-012-9579-6

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Saskia Wortmann^* (First author), Leo A J Kluijtmans, Richard J Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S Alkuraya, Izelle Smuts, Carolus J Reinecke, Francois H van der Westhuizen, David Thorburn, Jan A M Smeitink, Eva Morava, Ron A Wevers

^*Corresponding author for this work

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

56 Citations (Web of Science)

Original language	English
Pages (from-to)	913-921
Journal	JOURNAL OF INHERITED METABOLIC DISEASE
Volume	36
Issue number	6
DOIs	https://doi.org/10.1007/s10545-012-9579-6
Publication status	Published - 2013

Keywords

PEARSON-SYNDROME
MITOCHONDRIAL DYSFUNCTION
PROPIONIC ACIDURIA
METABOLISM
MUTATION
DEFECTS
MODEL
DNA

Access to Document

10.1007/s10545-012-9579-6

Cite this

Wortmann, S., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjaerg, L., de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E., & Wevers, R. A. (2013). 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. JOURNAL OF INHERITED METABOLIC DISEASE , 36(6), 913-921. https://doi.org/10.1007/s10545-012-9579-6

Wortmann, Saskia ; Kluijtmans, Leo A J ; Rodenburg, Richard J et al. / 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. In: JOURNAL OF INHERITED METABOLIC DISEASE 2013 ; Vol. 36, No. 6. pp. 913-921.

@article{b77a322b86434a9ca739100246cd9279,

title = "3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.",

keywords = "PEARSON-SYNDROME, MITOCHONDRIAL DYSFUNCTION, PROPIONIC ACIDURIA, METABOLISM, MUTATION, DEFECTS, MODEL, DNA",

author = "Saskia Wortmann and Kluijtmans, {Leo A J} and Rodenburg, {Richard J} and Sass, {J{\"o}rn Oliver} and Jessica Nouws and {van Kaauwen}, {Edwin P} and Tjitske Kleefstra and Lisbeth Tranebjaerg and {de Vries}, {Maaike C} and Pirjo Isohanni and Katharina Walter and Alkuraya, {Fowzan S} and Izelle Smuts and Reinecke, {Carolus J} and {van der Westhuizen}, {Francois H} and David Thorburn and Smeitink, {Jan A M} and Eva Morava and Wevers, {Ron A}",

year = "2013",

doi = "10.1007/s10545-012-9579-6",

language = "English",

volume = "36",

pages = "913--921",

journal = "JOURNAL OF INHERITED METABOLIC DISEASE ",

issn = "0141-8955",

publisher = "Wiley Verlag ",

number = "6",

}

Wortmann, S, Kluijtmans, LAJ, Rodenburg, RJ, Sass, JO, Nouws, J, van Kaauwen, EP, Kleefstra, T, Tranebjaerg, L, de Vries, MC, Isohanni, P, Walter, K, Alkuraya, FS, Smuts, I, Reinecke, CJ, van der Westhuizen, FH, Thorburn, D, Smeitink, JAM, Morava, E & Wevers, RA 2013, '3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.', JOURNAL OF INHERITED METABOLIC DISEASE , vol. 36, no. 6, pp. 913-921. https://doi.org/10.1007/s10545-012-9579-6

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. / Wortmann, Saskia (First author); Kluijtmans, Leo A J; Rodenburg, Richard J et al.
In: JOURNAL OF INHERITED METABOLIC DISEASE , Vol. 36, No. 6, 2013, p. 913-921.

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

TY - JOUR

T1 - 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

AU - Wortmann, Saskia

AU - Kluijtmans, Leo A J

AU - Rodenburg, Richard J

AU - Sass, Jörn Oliver

AU - Nouws, Jessica

AU - van Kaauwen, Edwin P

AU - Kleefstra, Tjitske

AU - Tranebjaerg, Lisbeth

AU - de Vries, Maaike C

AU - Isohanni, Pirjo

AU - Walter, Katharina

AU - Alkuraya, Fowzan S

AU - Smuts, Izelle

AU - Reinecke, Carolus J

AU - van der Westhuizen, Francois H

AU - Thorburn, David

AU - Smeitink, Jan A M

AU - Morava, Eva

AU - Wevers, Ron A

PY - 2013

Y1 - 2013

KW - PEARSON-SYNDROME

KW - MITOCHONDRIAL DYSFUNCTION

KW - PROPIONIC ACIDURIA

KW - METABOLISM

KW - MUTATION

KW - DEFECTS

KW - MODEL

KW - DNA

U2 - 10.1007/s10545-012-9579-6

DO - 10.1007/s10545-012-9579-6

M3 - Original Article

C2 - 23355087

SN - 0141-8955

VL - 36

SP - 913

EP - 921

JO - JOURNAL OF INHERITED METABOLIC DISEASE

JF - JOURNAL OF INHERITED METABOLIC DISEASE

IS - 6

ER -

Wortmann S, Kluijtmans LAJ, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP et al. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. JOURNAL OF INHERITED METABOLIC DISEASE . 2013;36(6):913-921. doi: 10.1007/s10545-012-9579-6