Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

JM van de Kamp; OT Betsalel; S Mercimek-Mahmutoglu; L Abulhoul; S Grunewald; I Anselm; H Azzouz; D Bratkovic; A (Annemarie) Brouwer; B Hamel; T Kleefstra; H Yntema; J Campistol; MA Vilaseca; D Cheillan; M D'Hooghe; L Diogo; P Garcia; C Valongo; M Fonseca; S Frints; B Wilcken; S (S.) ter Haar; HE Meijers-Heijboer; F Hofstede; D Johnson; SG Kant; L Lion-Francois; G Pitelet; N Longo; JA Maat-Kievit; JP Monteiro; A Munnich; AC Muntau; MC Nassogne; H Osaka; K Ounap; JM Pinard; S Quijano-Roy; I Poggenburg; N Poplawski; O Abdul-Rahman; A Ribes; A Arias; J Yaplito-Lee; A Schulze; CE Schwartz; S Schwenger; G Soares; Y Sznajer; V Valayannopoulos; H Van Esch; S Waltz; MMC Wamelink; PJW Pouwels; A Errami; MS van der Knaap; C Jakobs; Grazia Verheijen - Mancini; GS Salomons

doi:10.1136/jmedgenet-2013-101658

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

JM van de Kamp
, OT Betsalel
, S Mercimek-Mahmutoglu
, L Abulhoul
, S Grunewald
, I Anselm
, H Azzouz
, D Bratkovic
, A (Annemarie) Brouwer
, B Hamel
, T Kleefstra
, H Yntema
, J Campistol
, MA Vilaseca
, D Cheillan
, M D'Hooghe
, L Diogo
, P Garcia
, C Valongo
, M Fonseca

S Frints, B Wilcken, S (S.) ter Haar, HE Meijers-Heijboer, F Hofstede, D Johnson, SG Kant, L Lion-Francois, G Pitelet, N Longo, JA Maat-Kievit, JP Monteiro, A Munnich, AC Muntau, MC Nassogne, H Osaka, K Ounap, JM Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, CE Schwartz, S Schwenger, G Soares, Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, MMC Wamelink, PJW Pouwels, A Errami, MS van der Knaap, C Jakobs, Grazia Verheijen - Mancini, GS Salomons

External organisation

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

142 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	463-472
Number of pages	10
Journal	Journal of Medical Genetics
Volume	50
Issue number	7
DOIs	https://doi.org/10.1136/jmedgenet-2013-101658
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01

Access to Document

10.1136/jmedgenet-2013-101658

http://hdl.handle.net/1765/66522

Cite this

van de Kamp, JM., Betsalel, OT., Mercimek-Mahmutoglu, S., Abulhoul, L., Grunewald, S., Anselm, I., Azzouz, H., Bratkovic, D., Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, MA., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., ... Salomons, GS. (2013). Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics, 50(7), 463-472. https://doi.org/10.1136/jmedgenet-2013-101658

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title = "Phenotype and genotype in 101 males with X-linked creatine transporter deficiency",

author = "\{van de Kamp\}, JM and OT Betsalel and S Mercimek-Mahmutoglu and L Abulhoul and S Grunewald and I Anselm and H Azzouz and D Bratkovic and Brouwer, \{A (Annemarie)\} and B Hamel and T Kleefstra and H Yntema and J Campistol and MA Vilaseca and D Cheillan and M D'Hooghe and L Diogo and P Garcia and C Valongo and M Fonseca and S Frints and B Wilcken and \{ter Haar\}, \{S (S.)\} and HE Meijers-Heijboer and F Hofstede and D Johnson and SG Kant and L Lion-Francois and G Pitelet and N Longo and JA Maat-Kievit and JP Monteiro and A Munnich and AC Muntau and MC Nassogne and H Osaka and K Ounap and JM Pinard and S Quijano-Roy and I Poggenburg and N Poplawski and O Abdul-Rahman and A Ribes and A Arias and J Yaplito-Lee and A Schulze and CE Schwartz and S Schwenger and G Soares and Y Sznajer and V Valayannopoulos and \{Van Esch\}, H and S Waltz and MMC Wamelink and PJW Pouwels and A Errami and \{van der Knaap\}, MS and C Jakobs and \{Verheijen - Mancini\}, Grazia and GS Salomons",

year = "2013",

doi = "10.1136/jmedgenet-2013-101658",

language = "Undefined/Unknown",

volume = "50",

pages = "463--472",

journal = "Journal of Medical Genetics",

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van de Kamp, JM, Betsalel, OT, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, MA, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, ter Haar, S, Meijers-Heijboer, HE, Hofstede, F, Johnson, D, Kant, SG, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, JA, Monteiro, JP, Munnich, A, Muntau, AC, Nassogne, MC, Osaka, H, Ounap, K, Pinard, JM, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, CE, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, MMC, Pouwels, PJW, Errami, A, van der Knaap, MS, Jakobs, C, Verheijen - Mancini, G & Salomons, GS 2013, 'Phenotype and genotype in 101 males with X-linked creatine transporter deficiency', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472. https://doi.org/10.1136/jmedgenet-2013-101658

TY - JOUR

T1 - Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

AU - van de Kamp, JM

AU - Betsalel, OT

AU - Mercimek-Mahmutoglu, S

AU - Abulhoul, L

AU - Grunewald, S

AU - Anselm, I

AU - Azzouz, H

AU - Bratkovic, D

AU - Brouwer, A (Annemarie)

AU - Hamel, B

AU - Kleefstra, T

AU - Yntema, H

AU - Campistol, J

AU - Vilaseca, MA

AU - Cheillan, D

AU - D'Hooghe, M

AU - Diogo, L

AU - Garcia, P

AU - Valongo, C

AU - Fonseca, M

AU - Frints, S

AU - Wilcken, B

AU - ter Haar, S (S.)

AU - Meijers-Heijboer, HE

AU - Hofstede, F

AU - Johnson, D

AU - Kant, SG

AU - Lion-Francois, L

AU - Pitelet, G

AU - Longo, N

AU - Maat-Kievit, JA

AU - Monteiro, JP

AU - Munnich, A

AU - Muntau, AC

AU - Nassogne, MC

AU - Osaka, H

AU - Ounap, K

AU - Pinard, JM

AU - Quijano-Roy, S

AU - Poggenburg, I

AU - Poplawski, N

AU - Abdul-Rahman, O

AU - Ribes, A

AU - Arias, A

AU - Yaplito-Lee, J

AU - Schulze, A

AU - Schwartz, CE

AU - Schwenger, S

AU - Soares, G

AU - Sznajer, Y

AU - Valayannopoulos, V

AU - Van Esch, H

AU - Waltz, S

AU - Wamelink, MMC

AU - Pouwels, PJW

AU - Errami, A

AU - van der Knaap, MS

AU - Jakobs, C

AU - Verheijen - Mancini, Grazia

AU - Salomons, GS

PY - 2013

Y1 - 2013

U2 - 10.1136/jmedgenet-2013-101658

DO - 10.1136/jmedgenet-2013-101658

M3 - Article

C2 - 23644449

SN - 0022-2593

VL - 50

SP - 463

EP - 472

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 7

ER -