Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

S. Mercimek-Mahmutoglu; G. Sinclair; S.J.M. van Dooren; W. Kanhai; P. Ashcraft; O.J. Michel; J. Nelson; O.T. Betsalel; L. Sweetman; C.A.J.M. Jakobs; G.S. Salomons

doi:10.1016/j.ymgme.2012.07.022

Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

S. Mercimek-Mahmutoglu, G. Sinclair, S.J.M. van Dooren, W. Kanhai, P. Ashcraft, O.J. Michel, J. Nelson, O.T. Betsalel, L. Sweetman, C.A.J.M. Jakobs, G.S. Salomons

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

Original language	Undefined/Unknown
Pages (from-to)	433-437
Journal	Molecular Genetics and Metabolism
Volume	107
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2012.07.022
Publication status	Published - 2012

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10.1016/j.ymgme.2012.07.022

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Mercimek-Mahmutoglu, S., Sinclair, G., van Dooren, S. J. M., Kanhai, W., Ashcraft, P., Michel, O. J., Nelson, J., Betsalel, O. T., Sweetman, L., Jakobs, C. A. J. M., & Salomons, G. S. (2012). Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease. Molecular Genetics and Metabolism, 107(3), 433-437. https://doi.org/10.1016/j.ymgme.2012.07.022

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title = "Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease",

author = "S. Mercimek-Mahmutoglu and G. Sinclair and {van Dooren}, S.J.M. and W. Kanhai and P. Ashcraft and O.J. Michel and J. Nelson and O.T. Betsalel and L. Sweetman and C.A.J.M. Jakobs and G.S. Salomons",

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Mercimek-Mahmutoglu, S, Sinclair, G, van Dooren, SJM, Kanhai, W, Ashcraft, P, Michel, OJ, Nelson, J, Betsalel, OT, Sweetman, L, Jakobs, CAJM & Salomons, GS 2012, 'Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 433-437. https://doi.org/10.1016/j.ymgme.2012.07.022

TY - JOUR

T1 - Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

AU - Mercimek-Mahmutoglu, S.

AU - Sinclair, G.

AU - van Dooren, S.J.M.

AU - Kanhai, W.

AU - Ashcraft, P.

AU - Michel, O.J.

AU - Nelson, J.

AU - Betsalel, O.T.

AU - Sweetman, L.

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

AU - Salomons, G.S.

PY - 2012

Y1 - 2012

U2 - 10.1016/j.ymgme.2012.07.022

DO - 10.1016/j.ymgme.2012.07.022

M3 - Article

C2 - 23031365

SN - 1096-7192

VL - 107

SP - 433

EP - 437

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3

ER -