Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

J.M. van de Kamp; P.J.W. Pouwels; F.K. Aarsen; L.W. Hoopen; D.L. Knol; J.B. de Klerk; I.F. de Coo; J.G. Huijmans; C.A.J.M. Jakobs; M.S. van der Knaap; G.S. Salomons; G.M. Mancini

doi:10.1007/s10545-011-9345-1

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

J.M. van de Kamp
, P.J.W. Pouwels
, F.K. Aarsen
, L.W. Hoopen
, D.L. Knol
, J.B. de Klerk
, I.F. de Coo
, J.G. Huijmans
, C.A.J.M. Jakobs
, M.S. van der Knaap
, G.S. Salomons
, G.M. Mancini

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

Abstract

The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated

Original language	English
Pages (from-to)	141-149
Journal	Journal of Inherited Metabolic Disease
Volume	35
Issue number	1
DOIs	https://doi.org/10.1007/s10545-011-9345-1
Publication status	Published - 2012

UN SDGs

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

SDG 3 Good Health and Well-being

Access to Document

10.1007/s10545-011-9345-1

Persistent URL (handle)

Persistent link

Cite this

van de Kamp, J. M., Pouwels, P. J. W., Aarsen, F. K., Hoopen, L. W., Knol, D. L., de Klerk, J. B., de Coo, I. F., Huijmans, J. G., Jakobs, C. A. J. M., van der Knaap, M. S., Salomons, G. S., & Mancini, G. M. (2012). Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. Journal of Inherited Metabolic Disease, 35(1), 141-149. https://doi.org/10.1007/s10545-011-9345-1

@article{2d62946102f24f26af49e6f486ddb568,

title = "Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect",

abstract = "The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated",

author = "\{van de Kamp\}, J.M. and P.J.W. Pouwels and F.K. Aarsen and L.W. Hoopen and D.L. Knol and \{de Klerk\}, J.B. and \{de Coo\}, I.F. and J.G. Huijmans and C.A.J.M. Jakobs and \{van der Knaap\}, M.S. and G.S. Salomons and G.M. Mancini",

year = "2012",

doi = "10.1007/s10545-011-9345-1",

language = "English",

volume = "35",

pages = "141--149",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "1",

}

van de Kamp, JM, Pouwels, PJW, Aarsen, FK, Hoopen, LW, Knol, DL, de Klerk, JB, de Coo, IF, Huijmans, JG, Jakobs, CAJM, van der Knaap, MS, Salomons, GS & Mancini, GM 2012, 'Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect', Journal of Inherited Metabolic Disease, vol. 35, no. 1, pp. 141-149. https://doi.org/10.1007/s10545-011-9345-1

TY - JOUR

T1 - Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

AU - van de Kamp, J.M.

AU - Pouwels, P.J.W.

AU - Aarsen, F.K.

AU - Hoopen, L.W.

AU - Knol, D.L.

AU - de Klerk, J.B.

AU - de Coo, I.F.

AU - Huijmans, J.G.

AU - Jakobs, C.A.J.M.

AU - van der Knaap, M.S.

AU - Salomons, G.S.

AU - Mancini, G.M.

PY - 2012

Y1 - 2012

N2 - The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated

AB - The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated

U2 - 10.1007/s10545-011-9345-1

DO - 10.1007/s10545-011-9345-1

M3 - Article

SN - 0141-8955

VL - 35

SP - 141

EP - 149

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 1

ER -

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

Abstract

UN SDGs

Access to Document

Persistent URL (handle)

Fingerprint

Cite this