CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Saskia B Wortmann; Richard J Rodenburg; Tim M Strom; Thomas Meitinger; Estela M Rubio-Gozalbo; Elzbieta Chrusciel; Felix Distelmaier; Christelle Golzio; Joop H Jansen; Clara van Karnebeek; Yolanda Lillquist; Szymon Zietkiewicz; Thomas Lucke; Katrin Ounap; Riina Zordania; Joy Yaplito-Lee; Hans van Bokhoven; Johannes N Spelbrink; Frederic M Vaz; Mia Pras-Raves; Rafal Ploski; Ewa Pronicka; Maria Kousi; Christine Klein; M Willemsen; A P M de Brouwer; H Prokisch; N Katsanis; R A Wevers; Radek Szklarczyk; Tobias B Haack; Soren W Gersting; Ania C Muntau; Aleksandar Rakovic; G Herma Renkema

doi:10.1016/j.ajhg.2014.12.013

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

Saskia B Wortmann
, Richard J Rodenburg
, Tim M Strom
, Thomas Meitinger
, Estela M Rubio-Gozalbo
, Elzbieta Chrusciel
, Felix Distelmaier
, Christelle Golzio
, Joop H Jansen
, Clara van Karnebeek
, Yolanda Lillquist
, Szymon Zietkiewicz
, Thomas Lucke
, Katrin Ounap
, Riina Zordania
, Joy Yaplito-Lee
, Hans van Bokhoven
, Johannes N Spelbrink
, Frederic M Vaz
, Mia Pras-Raves

Rafal Ploski, Ewa Pronicka, Maria Kousi, Christine Klein, M Willemsen, A P M de Brouwer, H Prokisch, N Katsanis, R A Wevers, Radek Szklarczyk, Tobias B Haack, Soren W Gersting, Ania C Muntau, Aleksandar Rakovic, G Herma Renkema

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

119 Citations (Scopus)

Original language	English
Pages (from-to)	245-257
Journal	Am J Hum Genet.
Volume	96
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2014.12.013
Publication status	Published - 2015
Publication type	A1 Journal article-refereed

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Publication forum classification

Publication forum level 3

Access to Document

10.1016/j.ajhg.2014.12.013

Cite this

Wortmann, S. B., Rodenburg, R. J., Strom, T. M., Meitinger, T., Rubio-Gozalbo, E. M., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J. H., van Karnebeek, C., Lillquist, Y., Zietkiewicz, S., Lucke, T., Ounap, K., Zordania, R., Yaplito-Lee, J., van Bokhoven, H., Spelbrink, J. N., Vaz, F. M., ... Renkema, G. H. (2015). CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet., 96(2), 245-257. https://doi.org/10.1016/j.ajhg.2014.12.013

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title = "CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder",

author = "Wortmann, \{Saskia B\} and Rodenburg, \{Richard J\} and Strom, \{Tim M\} and Thomas Meitinger and Rubio-Gozalbo, \{Estela M\} and Elzbieta Chrusciel and Felix Distelmaier and Christelle Golzio and Jansen, \{Joop H\} and \{van Karnebeek\}, Clara and Yolanda Lillquist and Szymon Zietkiewicz and Thomas Lucke and Katrin Ounap and Riina Zordania and Joy Yaplito-Lee and \{van Bokhoven\}, Hans and Spelbrink, \{Johannes N\} and Vaz, \{Frederic M\} and Mia Pras-Raves and Rafal Ploski and Ewa Pronicka and Maria Kousi and Christine Klein and M Willemsen and \{de Brouwer\}, \{A P M\} and H Prokisch and N Katsanis and Wevers, \{R A\} and Radek Szklarczyk and Haack, \{Tobias B\} and Gersting, \{Soren W\} and Muntau, \{Ania C\} and Aleksandar Rakovic and Renkema, \{G Herma\}",

year = "2015",

doi = "10.1016/j.ajhg.2014.12.013",

language = "English",

volume = "96",

pages = "245--257",

journal = "Am J Hum Genet.",

issn = "0002-9297",

publisher = "Cell Press",

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Wortmann, SB, Rodenburg, RJ, Strom, TM, Meitinger, T, Rubio-Gozalbo, EM, Chrusciel, E, Distelmaier, F, Golzio, C, Jansen, JH, van Karnebeek, C, Lillquist, Y, Zietkiewicz, S, Lucke, T, Ounap, K, Zordania, R, Yaplito-Lee, J, van Bokhoven, H, Spelbrink, JN, Vaz, FM, Pras-Raves, M, Ploski, R, Pronicka, E, Kousi, M, Klein, C, Willemsen, M, de Brouwer, APM, Prokisch, H, Katsanis, N, Wevers, RA, Szklarczyk, R, Haack, TB, Gersting, SW, Muntau, AC, Rakovic, A & Renkema, GH 2015, 'CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder', Am J Hum Genet., vol. 96, no. 2, pp. 245-257. https://doi.org/10.1016/j.ajhg.2014.12.013

TY - JOUR

T1 - CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

AU - Wortmann, Saskia B

AU - Rodenburg, Richard J

AU - Strom, Tim M

AU - Meitinger, Thomas

AU - Rubio-Gozalbo, Estela M

AU - Chrusciel, Elzbieta

AU - Distelmaier, Felix

AU - Golzio, Christelle

AU - Jansen, Joop H

AU - van Karnebeek, Clara

AU - Lillquist, Yolanda

AU - Zietkiewicz, Szymon

AU - Lucke, Thomas

AU - Ounap, Katrin

AU - Zordania, Riina

AU - Yaplito-Lee, Joy

AU - van Bokhoven, Hans

AU - Spelbrink, Johannes N

AU - Vaz, Frederic M

AU - Pras-Raves, Mia

AU - Ploski, Rafal

AU - Pronicka, Ewa

AU - Kousi, Maria

AU - Klein, Christine

AU - Willemsen, M

AU - de Brouwer, A P M

AU - Prokisch, H

AU - Katsanis, N

AU - Wevers, R A

AU - Szklarczyk, Radek

AU - Haack, Tobias B

AU - Gersting, Soren W

AU - Muntau, Ania C

AU - Rakovic, Aleksandar

AU - Renkema, G Herma

PY - 2015

Y1 - 2015

U2 - 10.1016/j.ajhg.2014.12.013

DO - 10.1016/j.ajhg.2014.12.013

M3 - Article

SN - 0002-9297

VL - 96

SP - 245

EP - 257

JO - Am J Hum Genet.

JF - Am J Hum Genet.

IS - 2

ER -